Canonical Allele Identifier: CA7385974
Gene: JAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2371200
ClinVar RCV Id: RCV004210019
dbSNP Id: rs775742241
ExAC: 14:105616991 C / T
gnomAD v2: 14-105616991-C-T
gnomAD v3: 14-105150654-C-T
gnomAD v4: 14-105150654-C-T
MyVariant Identifiers: chr14:g.105616991C>T (hg19) chr14:g.105150654C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.105150654C>T , CM000676.2:g.105150654C>T GRCh38
NC_000014.8:g.105616991C>T , CM000676.1:g.105616991C>T GRCh37
NC_000014.7:g.104688036C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331782.8:c.1552G>A MANE Select ENSP00000328169.3:p.Asp518Asn
ENST00000331782.7:c.1552G>A ENSP00000328169.3:p.Asp518Asn
ENST00000347004.2:c.1438G>A ENSP00000328566.2:p.Asp480Asn
NM_002226.4:c.1552G>A NP_002217.3:p.Asp518Asn
NM_145159.2:c.1438G>A NP_660142.1:p.Asp480Asn
XM_011536736.1:c.1552G>A XP_011535038.1:p.Asp518Asn
XR_001750303.2:n.1613G>A
NM_002226.5:c.1552G>A MANE Select NP_002217.3:p.Asp518Asn
NM_145159.3:c.1438G>A NP_660142.1:p.Asp480Asn
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