Canonical Allele Identifier: CA488731436
Gene: JAG2 HGNC NCBI

Linked Data

gnomAD v4: 14-105150712-T-C
MyVariant Identifiers: chr14:g.105617049T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.105150712T>C , CM000676.2:g.105150712T>C GRCh38
NC_000014.8:g.105617049T>C , CM000676.1:g.105617049T>C GRCh37
NC_000014.7:g.104688094T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000331782.8:c.1494A>G MANE Select ENSP00000328169.3:p.Glu498=
ENST00000331782.7:c.1494A>G ENSP00000328169.3:p.Glu498=
ENST00000347004.2:c.1380A>G ENSP00000328566.2:p.Glu460=
NM_002226.4:c.1494A>G NP_002217.3:p.Glu498=
NM_145159.2:c.1380A>G NP_660142.1:p.Glu460=
XM_011536736.1:c.1494A>G XP_011535038.1:p.Glu498=
XR_001750303.2:n.1555A>G
NM_002226.5:c.1494A>G MANE Select NP_002217.3:p.Glu498=
NM_145159.3:c.1380A>G NP_660142.1:p.Glu460=
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