Canonical Allele Identifier: CA391271458

Gene: JAG2

Linked Data

• dbSNP Id: rs1159121482
• gnomAD v2: 14-105617045-C-G
• gnomAD v4: 14-105150708-C-G
• MyVariant Identifiers: chr14:g.105617045C>G (hg19) ; chr14:g.105150708C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105150708C>G , CM000676.2:g.105150708C>G	GRCh38
NC_000014.8:g.105617045C>G , CM000676.1:g.105617045C>G	GRCh37
NC_000014.7:g.104688090C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000331782.8:c.1498G>C MANE Select	ENSP00000328169.3:p.Asp500His
ENST00000331782.7:c.1498G>C	ENSP00000328169.3:p.Asp500His
ENST00000347004.2:c.1384G>C	ENSP00000328566.2:p.Asp462His
NM_002226.4:c.1498G>C	NP_002217.3:p.Asp500His
NM_145159.2:c.1384G>C	NP_660142.1:p.Asp462His
XM_011536736.1:c.1498G>C	XP_011535038.1:p.Asp500His
XR_001750303.2:n.1559G>C
NM_002226.5:c.1498G>C MANE Select	NP_002217.3:p.Asp500His
NM_145159.3:c.1384G>C	NP_660142.1:p.Asp462His