Canonical Allele Identifier: CA16604353
Gene: NRXN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383959
ClinVar RCV Id: RCV000427988
dbSNP Id: rs1057521798
MyVariant Identifiers: chr2:g.50724518A>C (hg19) chr2:g.50497380A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.50497380A>C , CM000664.2:g.50497380A>C GRCh38
NC_000002.11:g.50724518A>C , CM000664.1:g.50724518A>C GRCh37
NC_000002.10:g.50578022A>C NCBI36
NG_011878.1:g.540157T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000401669.7:c.2832T>G MANE Select ENSP00000385017.2:p.Tyr944Ter
ENST00000462791.2:n.808T>G
ENST00000636298.1:n.1731T>G
ENST00000331040.9:c.1986T>G ENSP00000489573.1:p.Tyr662Ter
ENST00000401669.6:c.2832T>G ENSP00000385017.2:p.Tyr944Ter
ENST00000402717.6:c.1977T>G ENSP00000385434.4:p.Tyr659Ter
ENST00000404971.5:c.2952T>G ENSP00000385142.1:p.Tyr984Ter
ENST00000405472.7:c.2796T>G ENSP00000434015.2:p.Tyr932Ter
ENST00000406316.6:c.2832T>G ENSP00000384311.2:p.Tyr944Ter
ENST00000406859.7:c.2022T>G ENSP00000385681.4:p.Tyr674Ter
ENST00000625672.2:c.2808T>G ENSP00000485887.1:p.Tyr936Ter
ENST00000630543.2:c.2808T>G ENSP00000486879.1:p.Tyr936Ter
NM_001135659.1:c.2952T>G NP_001129131.1:p.Tyr984Ter
NM_004801.4:c.2832T>G NP_004792.1:p.Tyr944Ter
XM_005264642.2:c.2853T>G XP_005264699.1:p.Tyr951Ter
XM_005264643.2:c.2808T>G XP_005264700.1:p.Tyr936Ter
XM_006712137.2:c.2853T>G XP_006712200.1:p.Tyr951Ter
XM_006712140.2:c.2853T>G XP_006712203.1:p.Tyr951Ter
XM_006712141.2:c.2853T>G XP_006712204.1:p.Tyr951Ter
XM_011533167.1:c.2853T>G XP_011531469.1:p.Tyr951Ter
XM_011533168.1:c.2850T>G XP_011531470.1:p.Tyr950Ter
XM_011533169.1:c.2841T>G XP_011531471.1:p.Tyr947Ter
XM_011533170.1:c.2835T>G XP_011531472.1:p.Tyr945Ter
XM_011533171.1:c.2832T>G XP_011531473.1:p.Tyr944Ter
XM_011533172.1:c.2826T>G XP_011531474.1:p.Tyr942Ter
XM_011533173.1:c.2823T>G XP_011531475.1:p.Tyr941Ter
XM_011533174.1:c.2808T>G XP_011531476.1:p.Tyr936Ter
XM_011533175.1:c.2796T>G XP_011531477.1:p.Tyr932Ter
XM_011533176.1:c.2793T>G XP_011531478.1:p.Tyr931Ter
XM_011533177.1:c.2853T>G XP_011531479.1:p.Tyr951Ter
XM_011533178.1:c.2763T>G XP_011531480.1:p.Tyr921Ter
XM_011533179.1:c.2808T>G XP_011531481.1:p.Tyr936Ter
XM_011533180.1:c.2853T>G XP_011531482.1:p.Tyr951Ter
XM_011533181.1:c.2058T>G XP_011531483.1:p.Tyr686Ter
XM_011533182.1:c.2013T>G XP_011531484.1:p.Tyr671Ter
XM_011533183.1:c.1986T>G XP_011531485.1:p.Tyr662Ter
XM_011533184.1:c.1893T>G XP_011531486.1:p.Tyr631Ter
NM_001135659.2:c.2952T>G NP_001129131.1:p.Tyr984Ter
NM_001330077.1:c.2808T>G NP_001317006.1:p.Tyr936Ter
NM_001330078.1:c.2832T>G NP_001317007.1:p.Tyr944Ter
NM_001330082.1:c.2808T>G NP_001317011.1:p.Tyr936Ter
NM_001330083.1:c.2766T>G NP_001317012.1:p.Tyr922Ter
NM_001330084.1:c.2766T>G NP_001317013.1:p.Tyr922Ter
NM_001330085.1:c.2805T>G NP_001317014.1:p.Tyr935Ter
NM_001330086.1:c.2832T>G NP_001317015.1:p.Tyr944Ter
NM_001330087.1:c.2721T>G NP_001317016.1:p.Tyr907Ter
NM_001330088.1:c.2751T>G NP_001317017.1:p.Tyr917Ter
NM_001330093.1:c.2829T>G NP_001317022.1:p.Tyr943Ter
NM_001330094.1:c.2820T>G NP_001317023.1:p.Tyr940Ter
NM_001330095.1:c.2781T>G NP_001317024.1:p.Tyr927Ter
NM_001330096.1:c.2721T>G NP_001317025.1:p.Tyr907Ter
NM_004801.5:c.2832T>G NP_004792.1:p.Tyr944Ter
XM_005264642.4:c.2853T>G XP_005264699.1:p.Tyr951Ter
XM_006712137.4:c.2853T>G XP_006712200.1:p.Tyr951Ter
XM_006712140.4:c.2853T>G XP_006712203.2:p.Tyr951Ter
XM_011533167.3:c.2853T>G XP_011531469.1:p.Tyr951Ter
XM_011533172.3:c.2826T>G XP_011531474.1:p.Tyr942Ter
XM_011533175.3:c.2796T>G XP_011531477.1:p.Tyr932Ter
XM_011533177.3:c.2853T>G XP_011531479.1:p.Tyr951Ter
XM_011533178.3:c.2763T>G XP_011531480.1:p.Tyr921Ter
XM_011533180.3:c.2853T>G XP_011531482.1:p.Tyr951Ter
XM_011533183.2:c.1986T>G XP_011531485.1:p.Tyr662Ter
XM_017005303.2:c.2853T>G XP_016860792.1:p.Tyr951Ter
XM_017005304.2:c.2850T>G XP_016860793.1:p.Tyr950Ter
XM_017005305.2:c.2853T>G XP_016860794.1:p.Tyr951Ter
XM_017005306.2:c.2841T>G XP_016860795.1:p.Tyr947Ter
XM_017005307.2:c.2835T>G XP_016860796.1:p.Tyr945Ter
XM_017005308.2:c.2832T>G XP_016860797.1:p.Tyr944Ter
XM_017005309.2:c.2826T>G XP_016860798.1:p.Tyr942Ter
XM_017005310.2:c.2823T>G XP_016860799.1:p.Tyr941Ter
XM_017005311.2:c.2808T>G XP_016860800.1:p.Tyr936Ter
XM_017005314.2:c.2793T>G XP_016860803.1:p.Tyr931Ter
XM_017005315.2:c.2826T>G XP_016860804.1:p.Tyr942Ter
XM_017005316.2:c.2790T>G XP_016860805.1:p.Tyr930Ter
XM_017005318.2:c.2781T>G XP_016860807.1:p.Tyr927Ter
XM_017005320.2:c.2805T>G XP_016860809.1:p.Tyr935Ter
XM_017005321.2:c.2853T>G XP_016860810.1:p.Tyr951Ter
XM_017005322.2:c.2853T>G XP_016860811.1:p.Tyr951Ter
XM_017005324.2:c.2826T>G XP_016860813.1:p.Tyr942Ter
XM_017005325.2:c.2826T>G XP_016860814.1:p.Tyr942Ter
XM_017005326.2:c.2814T>G XP_016860815.1:p.Tyr938Ter
XM_017005327.2:c.2808T>G XP_016860816.1:p.Tyr936Ter
XM_017005329.2:c.2853T>G XP_016860818.1:p.Tyr951Ter
XM_017005334.2:c.1893T>G XP_016860823.1:p.Tyr631Ter
NM_001330078.2:c.2832T>G MANE Select NP_001317007.1:p.Tyr944Ter
NM_001135659.3:c.2952T>G NP_001129131.1:p.Tyr984Ter
NM_001330077.2:c.2808T>G NP_001317006.1:p.Tyr936Ter
NM_001330082.2:c.2808T>G NP_001317011.1:p.Tyr936Ter
NM_001330083.2:c.2766T>G NP_001317012.1:p.Tyr922Ter
NM_001330084.2:c.2766T>G NP_001317013.1:p.Tyr922Ter
NM_001330085.2:c.2805T>G NP_001317014.1:p.Tyr935Ter
NM_001330086.2:c.2832T>G NP_001317015.1:p.Tyr944Ter
NM_001330087.2:c.2721T>G NP_001317016.1:p.Tyr907Ter
NM_001330088.2:c.2751T>G NP_001317017.1:p.Tyr917Ter
NM_001330093.2:c.2829T>G NP_001317022.1:p.Tyr943Ter
NM_001330094.2:c.2820T>G NP_001317023.1:p.Tyr940Ter
NM_001330095.2:c.2781T>G NP_001317024.1:p.Tyr927Ter
NM_001330096.2:c.2721T>G NP_001317025.1:p.Tyr907Ter
NM_004801.6:c.2832T>G NP_004792.1:p.Tyr944Ter
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