Canonical Allele Identifier: CA346776752

Gene: NRXN1

Linked Data

• MyVariant Identifiers: chr2:g.50724505C>A (hg19) ; chr2:g.50497367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.50497367C>A , CM000664.2:g.50497367C>A	GRCh38
NC_000002.11:g.50724505C>A , CM000664.1:g.50724505C>A	GRCh37
NC_000002.10:g.50578009C>A	NCBI36
NG_011878.1:g.540170G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.2845G>T MANE Select	ENSP00000385017.2:p.Gly949Ter
ENST00000462791.2:n.821G>T
ENST00000636298.1:n.1744G>T
ENST00000637889.1:n.12G>T
ENST00000331040.9:c.1999G>T	ENSP00000489573.1:p.Gly667Ter
ENST00000401669.6:c.2845G>T	ENSP00000385017.2:p.Gly949Ter
ENST00000402717.6:c.1990G>T	ENSP00000385434.4:p.Gly664Ter
ENST00000404971.5:c.2965G>T	ENSP00000385142.1:p.Gly989Ter
ENST00000405472.7:c.2809G>T	ENSP00000434015.2:p.Gly937Ter
ENST00000406316.6:c.2845G>T	ENSP00000384311.2:p.Gly949Ter
ENST00000406859.7:c.2035G>T	ENSP00000385681.4:p.Gly679Ter
ENST00000625672.2:c.2821G>T	ENSP00000485887.1:p.Gly941Ter
ENST00000630543.2:c.2821G>T	ENSP00000486879.1:p.Gly941Ter
NM_001135659.1:c.2965G>T	NP_001129131.1:p.Gly989Ter
NM_004801.4:c.2845G>T	NP_004792.1:p.Gly949Ter
XM_005264642.2:c.2866G>T	XP_005264699.1:p.Gly956Ter
XM_005264643.2:c.2821G>T	XP_005264700.1:p.Gly941Ter
XM_006712137.2:c.2866G>T	XP_006712200.1:p.Gly956Ter
XM_006712140.2:c.2866G>T	XP_006712203.1:p.Gly956Ter
XM_006712141.2:c.2866G>T	XP_006712204.1:p.Gly956Ter
XM_011533167.1:c.2866G>T	XP_011531469.1:p.Gly956Ter
XM_011533168.1:c.2863G>T	XP_011531470.1:p.Gly955Ter
XM_011533169.1:c.2854G>T	XP_011531471.1:p.Gly952Ter
XM_011533170.1:c.2848G>T	XP_011531472.1:p.Gly950Ter
XM_011533171.1:c.2845G>T	XP_011531473.1:p.Gly949Ter
XM_011533172.1:c.2839G>T	XP_011531474.1:p.Gly947Ter
XM_011533173.1:c.2836G>T	XP_011531475.1:p.Gly946Ter
XM_011533174.1:c.2821G>T	XP_011531476.1:p.Gly941Ter
XM_011533175.1:c.2809G>T	XP_011531477.1:p.Gly937Ter
XM_011533176.1:c.2806G>T	XP_011531478.1:p.Gly936Ter
XM_011533177.1:c.2866G>T	XP_011531479.1:p.Gly956Ter
XM_011533178.1:c.2776G>T	XP_011531480.1:p.Gly926Ter
XM_011533179.1:c.2821G>T	XP_011531481.1:p.Gly941Ter
XM_011533180.1:c.2866G>T	XP_011531482.1:p.Gly956Ter
XM_011533181.1:c.2071G>T	XP_011531483.1:p.Gly691Ter
XM_011533182.1:c.2026G>T	XP_011531484.1:p.Gly676Ter
XM_011533183.1:c.1999G>T	XP_011531485.1:p.Gly667Ter
XM_011533184.1:c.1906G>T	XP_011531486.1:p.Gly636Ter
NM_001135659.2:c.2965G>T	NP_001129131.1:p.Gly989Ter
NM_001330077.1:c.2821G>T	NP_001317006.1:p.Gly941Ter
NM_001330078.1:c.2845G>T	NP_001317007.1:p.Gly949Ter
NM_001330082.1:c.2821G>T	NP_001317011.1:p.Gly941Ter
NM_001330083.1:c.2779G>T	NP_001317012.1:p.Gly927Ter
NM_001330084.1:c.2779G>T	NP_001317013.1:p.Gly927Ter
NM_001330085.1:c.2818G>T	NP_001317014.1:p.Gly940Ter
NM_001330086.1:c.2845G>T	NP_001317015.1:p.Gly949Ter
NM_001330087.1:c.2734G>T	NP_001317016.1:p.Gly912Ter
NM_001330088.1:c.2764G>T	NP_001317017.1:p.Gly922Ter
NM_001330093.1:c.2842G>T	NP_001317022.1:p.Gly948Ter
NM_001330094.1:c.2833G>T	NP_001317023.1:p.Gly945Ter
NM_001330095.1:c.2794G>T	NP_001317024.1:p.Gly932Ter
NM_001330096.1:c.2734G>T	NP_001317025.1:p.Gly912Ter
NM_004801.5:c.2845G>T	NP_004792.1:p.Gly949Ter
XM_005264642.4:c.2866G>T	XP_005264699.1:p.Gly956Ter
XM_006712137.4:c.2866G>T	XP_006712200.1:p.Gly956Ter
XM_006712140.4:c.2866G>T	XP_006712203.2:p.Gly956Ter
XM_011533167.3:c.2866G>T	XP_011531469.1:p.Gly956Ter
XM_011533172.3:c.2839G>T	XP_011531474.1:p.Gly947Ter
XM_011533175.3:c.2809G>T	XP_011531477.1:p.Gly937Ter
XM_011533177.3:c.2866G>T	XP_011531479.1:p.Gly956Ter
XM_011533178.3:c.2776G>T	XP_011531480.1:p.Gly926Ter
XM_011533180.3:c.2866G>T	XP_011531482.1:p.Gly956Ter
XM_011533183.2:c.1999G>T	XP_011531485.1:p.Gly667Ter
XM_017005303.2:c.2866G>T	XP_016860792.1:p.Gly956Ter
XM_017005304.2:c.2863G>T	XP_016860793.1:p.Gly955Ter
XM_017005305.2:c.2866G>T	XP_016860794.1:p.Gly956Ter
XM_017005306.2:c.2854G>T	XP_016860795.1:p.Gly952Ter
XM_017005307.2:c.2848G>T	XP_016860796.1:p.Gly950Ter
XM_017005308.2:c.2845G>T	XP_016860797.1:p.Gly949Ter
XM_017005309.2:c.2839G>T	XP_016860798.1:p.Gly947Ter
XM_017005310.2:c.2836G>T	XP_016860799.1:p.Gly946Ter
XM_017005311.2:c.2821G>T	XP_016860800.1:p.Gly941Ter
XM_017005314.2:c.2806G>T	XP_016860803.1:p.Gly936Ter
XM_017005315.2:c.2839G>T	XP_016860804.1:p.Gly947Ter
XM_017005316.2:c.2803G>T	XP_016860805.1:p.Gly935Ter
XM_017005318.2:c.2794G>T	XP_016860807.1:p.Gly932Ter
XM_017005320.2:c.2818G>T	XP_016860809.1:p.Gly940Ter
XM_017005321.2:c.2866G>T	XP_016860810.1:p.Gly956Ter
XM_017005322.2:c.2866G>T	XP_016860811.1:p.Gly956Ter
XM_017005324.2:c.2839G>T	XP_016860813.1:p.Gly947Ter
XM_017005325.2:c.2839G>T	XP_016860814.1:p.Gly947Ter
XM_017005326.2:c.2827G>T	XP_016860815.1:p.Gly943Ter
XM_017005327.2:c.2821G>T	XP_016860816.1:p.Gly941Ter
XM_017005329.2:c.2866G>T	XP_016860818.1:p.Gly956Ter
XM_017005334.2:c.1906G>T	XP_016860823.1:p.Gly636Ter
NM_001330078.2:c.2845G>T MANE Select	NP_001317007.1:p.Gly949Ter
NM_001135659.3:c.2965G>T	NP_001129131.1:p.Gly989Ter
NM_001330077.2:c.2821G>T	NP_001317006.1:p.Gly941Ter
NM_001330082.2:c.2821G>T	NP_001317011.1:p.Gly941Ter
NM_001330083.2:c.2779G>T	NP_001317012.1:p.Gly927Ter
NM_001330084.2:c.2779G>T	NP_001317013.1:p.Gly927Ter
NM_001330085.2:c.2818G>T	NP_001317014.1:p.Gly940Ter
NM_001330086.2:c.2845G>T	NP_001317015.1:p.Gly949Ter
NM_001330087.2:c.2734G>T	NP_001317016.1:p.Gly912Ter
NM_001330088.2:c.2764G>T	NP_001317017.1:p.Gly922Ter
NM_001330093.2:c.2842G>T	NP_001317022.1:p.Gly948Ter
NM_001330094.2:c.2833G>T	NP_001317023.1:p.Gly945Ter
NM_001330095.2:c.2794G>T	NP_001317024.1:p.Gly932Ter
NM_001330096.2:c.2734G>T	NP_001317025.1:p.Gly912Ter
NM_004801.6:c.2845G>T	NP_004792.1:p.Gly949Ter