Canonical Allele Identifier: CA391271343
Gene: JAG2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000331782.8:c.1552G>C MANE Select ENSP00000328169.3:p.Asp518His
ENST00000331782.7:c.1552G>C ENSP00000328169.3:p.Asp518His
ENST00000347004.2:c.1438G>C ENSP00000328566.2:p.Asp480His
NM_002226.4:c.1552G>C NP_002217.3:p.Asp518His
NM_145159.2:c.1438G>C NP_660142.1:p.Asp480His
XM_011536736.1:c.1552G>C XP_011535038.1:p.Asp518His
XR_001750303.2:n.1613G>C
NM_002226.5:c.1552G>C MANE Select NP_002217.3:p.Asp518His
NM_145159.3:c.1438G>C NP_660142.1:p.Asp480His