Canonical Allele Identifier: CA241167

Gene: NRXN1

Linked Data

• ClinVar Variation Id: 194930
• ClinVar RCV Id: RCV000522614 ; RCV000787967 ; RCV002466460
• dbSNP Id: rs199546979
• gnomAD v4: 2-50236836-G-A
• COSMIC: COSM1021456 ; COSM1021457 ; COSM1021458 ; COSM1153798 ; COSM4871327
• MyVariant Identifiers: chr2:g.50463974G>A (hg19) ; chr2:g.50236836G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.50236836G>A , CM000664.2:g.50236836G>A	GRCh38
NC_000002.11:g.50463974G>A , CM000664.1:g.50463974G>A	GRCh37
NC_000002.10:g.50317478G>A	NCBI36
NG_011878.1:g.800701C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.3499C>T MANE Select	ENSP00000385017.2:p.Arg1167Ter
ENST00000636298.1:n.2398C>T
ENST00000636736.1:n.5C>T
ENST00000637889.1:n.666C>T
ENST00000637906.1:c.277C>T	ENSP00000490198.1:p.Arg93Ter
ENST00000331040.9:c.2653C>T	ENSP00000489573.1:p.Arg885Ter
ENST00000342183.9:c.394C>T	ENSP00000341184.5:p.Arg132Ter
ENST00000401669.6:c.3499C>T	ENSP00000385017.2:p.Arg1167Ter
ENST00000401710.5:c.394C>T	ENSP00000385580.2:p.Arg132Ter
ENST00000404971.5:c.3619C>T	ENSP00000385142.1:p.Arg1207Ter
ENST00000405472.7:c.3463C>T	ENSP00000434015.2:p.Arg1155Ter
ENST00000406316.6:c.3499C>T	ENSP00000384311.2:p.Arg1167Ter
ENST00000611589.4:c.-339C>T	ENSP00000483634.1:n.-339C>T
ENST00000625320.2:c.628C>T	ENSP00000486253.1:p.Arg210Ter
ENST00000625672.2:c.3475C>T	ENSP00000485887.1:p.Arg1159Ter
ENST00000628364.2:c.394C>T	ENSP00000485815.1:p.Arg132Ter
ENST00000630543.2:c.3475C>T	ENSP00000486879.1:p.Arg1159Ter
ENST00000635264.1:n.308C>T
NM_001135659.1:c.3619C>T	NP_001129131.1:p.Arg1207Ter
NM_004801.4:c.3499C>T	NP_004792.1:p.Arg1167Ter
NM_138735.2:c.394C>T	NP_620072.1:p.Arg132Ter
XM_005264642.2:c.3520C>T	XP_005264699.1:p.Arg1174Ter
XM_005264643.2:c.3475C>T	XP_005264700.1:p.Arg1159Ter
XM_006712137.2:c.3520C>T	XP_006712200.1:p.Arg1174Ter
XM_006712140.2:c.3520C>T	XP_006712203.1:p.Arg1174Ter
XM_006712141.2:c.3520C>T	XP_006712204.1:p.Arg1174Ter
XM_011533167.1:c.3520C>T	XP_011531469.1:p.Arg1174Ter
XM_011533168.1:c.3517C>T	XP_011531470.1:p.Arg1173Ter
XM_011533169.1:c.3508C>T	XP_011531471.1:p.Arg1170Ter
XM_011533170.1:c.3502C>T	XP_011531472.1:p.Arg1168Ter
XM_011533171.1:c.3499C>T	XP_011531473.1:p.Arg1167Ter
XM_011533172.1:c.3493C>T	XP_011531474.1:p.Arg1165Ter
XM_011533173.1:c.3490C>T	XP_011531475.1:p.Arg1164Ter
XM_011533174.1:c.3475C>T	XP_011531476.1:p.Arg1159Ter
XM_011533175.1:c.3463C>T	XP_011531477.1:p.Arg1155Ter
XM_011533176.1:c.3460C>T	XP_011531478.1:p.Arg1154Ter
XM_011533177.1:c.3520C>T	XP_011531479.1:p.Arg1174Ter
XM_011533178.1:c.3430C>T	XP_011531480.1:p.Arg1144Ter
XM_011533179.1:c.3475C>T	XP_011531481.1:p.Arg1159Ter
XM_011533180.1:c.3520C>T	XP_011531482.1:p.Arg1174Ter
XM_011533181.1:c.2725C>T	XP_011531483.1:p.Arg909Ter
XM_011533182.1:c.2680C>T	XP_011531484.1:p.Arg894Ter
XM_011533183.1:c.2653C>T	XP_011531485.1:p.Arg885Ter
XM_011533184.1:c.2560C>T	XP_011531486.1:p.Arg854Ter
NM_001135659.2:c.3619C>T	NP_001129131.1:p.Arg1207Ter
NM_001330077.1:c.3475C>T	NP_001317006.1:p.Arg1159Ter
NM_001330078.1:c.3499C>T	NP_001317007.1:p.Arg1167Ter
NM_001330082.1:c.3475C>T	NP_001317011.1:p.Arg1159Ter
NM_001330083.1:c.3433C>T	NP_001317012.1:p.Arg1145Ter
NM_001330084.1:c.3433C>T	NP_001317013.1:p.Arg1145Ter
NM_001330085.1:c.3472C>T	NP_001317014.1:p.Arg1158Ter
NM_001330086.1:c.3499C>T	NP_001317015.1:p.Arg1167Ter
NM_001330087.1:c.3388C>T	NP_001317016.1:p.Arg1130Ter
NM_001330088.1:c.3418C>T	NP_001317017.1:p.Arg1140Ter
NM_001330091.1:c.394C>T	NP_001317020.1:p.Arg132Ter
NM_001330092.1:c.394C>T	NP_001317021.1:p.Arg132Ter
NM_001330093.1:c.3496C>T	NP_001317022.1:p.Arg1166Ter
NM_001330094.1:c.3487C>T	NP_001317023.1:p.Arg1163Ter
NM_001330095.1:c.3448C>T	NP_001317024.1:p.Arg1150Ter
NM_001330096.1:c.3388C>T	NP_001317025.1:p.Arg1130Ter
NM_001330097.1:c.394C>T	NP_001317026.1:p.Arg132Ter
NM_004801.5:c.3499C>T	NP_004792.1:p.Arg1167Ter
NM_138735.4:c.394C>T	NP_620072.1:p.Arg132Ter
XM_005264642.4:c.3520C>T	XP_005264699.1:p.Arg1174Ter
XM_006712137.4:c.3520C>T	XP_006712200.1:p.Arg1174Ter
XM_006712140.4:c.3547C>T	XP_006712203.2:p.Arg1183Ter
XM_011533167.3:c.3520C>T	XP_011531469.1:p.Arg1174Ter
XM_011533172.3:c.3493C>T	XP_011531474.1:p.Arg1165Ter
XM_011533175.3:c.3463C>T	XP_011531477.1:p.Arg1155Ter
XM_011533177.3:c.3520C>T	XP_011531479.1:p.Arg1174Ter
XM_011533178.3:c.3430C>T	XP_011531480.1:p.Arg1144Ter
XM_011533180.3:c.3520C>T	XP_011531482.1:p.Arg1174Ter
XM_011533183.2:c.2653C>T	XP_011531485.1:p.Arg885Ter
XM_017005303.2:c.3547C>T	XP_016860792.1:p.Arg1183Ter
XM_017005304.2:c.3544C>T	XP_016860793.1:p.Arg1182Ter
XM_017005305.2:c.3547C>T	XP_016860794.1:p.Arg1183Ter
XM_017005306.2:c.3535C>T	XP_016860795.1:p.Arg1179Ter
XM_017005307.2:c.3529C>T	XP_016860796.1:p.Arg1177Ter
XM_017005308.2:c.3526C>T	XP_016860797.1:p.Arg1176Ter
XM_017005309.2:c.3520C>T	XP_016860798.1:p.Arg1174Ter
XM_017005310.2:c.3517C>T	XP_016860799.1:p.Arg1173Ter
XM_017005311.2:c.3502C>T	XP_016860800.1:p.Arg1168Ter
XM_017005314.2:c.3487C>T	XP_016860803.1:p.Arg1163Ter
XM_017005315.2:c.3493C>T	XP_016860804.1:p.Arg1165Ter
XM_017005316.2:c.3484C>T	XP_016860805.1:p.Arg1162Ter
XM_017005318.2:c.3475C>T	XP_016860807.1:p.Arg1159Ter
XM_017005320.2:c.3472C>T	XP_016860809.1:p.Arg1158Ter
XM_017005321.2:c.3547C>T	XP_016860810.1:p.Arg1183Ter
XM_017005322.2:c.3547C>T	XP_016860811.1:p.Arg1183Ter
XM_017005324.2:c.3493C>T	XP_016860813.1:p.Arg1165Ter
XM_017005325.2:c.3493C>T	XP_016860814.1:p.Arg1165Ter
XM_017005326.2:c.3481C>T	XP_016860815.1:p.Arg1161Ter
XM_017005327.2:c.3475C>T	XP_016860816.1:p.Arg1159Ter
XM_017005329.2:c.3547C>T	XP_016860818.1:p.Arg1183Ter
XM_017005334.2:c.2587C>T	XP_016860823.1:p.Arg863Ter
NM_001330078.2:c.3499C>T MANE Select	NP_001317007.1:p.Arg1167Ter
NM_001135659.3:c.3619C>T	NP_001129131.1:p.Arg1207Ter
NM_001330077.2:c.3475C>T	NP_001317006.1:p.Arg1159Ter
NM_001330082.2:c.3475C>T	NP_001317011.1:p.Arg1159Ter
NM_001330083.2:c.3433C>T	NP_001317012.1:p.Arg1145Ter
NM_001330084.2:c.3433C>T	NP_001317013.1:p.Arg1145Ter
NM_001330085.2:c.3472C>T	NP_001317014.1:p.Arg1158Ter
NM_001330086.2:c.3499C>T	NP_001317015.1:p.Arg1167Ter
NM_001330087.2:c.3388C>T	NP_001317016.1:p.Arg1130Ter
NM_001330088.2:c.3418C>T	NP_001317017.1:p.Arg1140Ter
NM_001330091.2:c.394C>T	NP_001317020.1:p.Arg132Ter
NM_001330092.2:c.394C>T	NP_001317021.1:p.Arg132Ter
NM_001330093.2:c.3496C>T	NP_001317022.1:p.Arg1166Ter
NM_001330094.2:c.3487C>T	NP_001317023.1:p.Arg1163Ter
NM_001330095.2:c.3448C>T	NP_001317024.1:p.Arg1150Ter
NM_001330096.2:c.3388C>T	NP_001317025.1:p.Arg1130Ter
NM_001330097.2:c.394C>T	NP_001317026.1:p.Arg132Ter
NM_004801.6:c.3499C>T	NP_004792.1:p.Arg1167Ter
NM_138735.5:c.394C>T	NP_620072.1:p.Arg132Ter