Canonical Allele Identifier: CA346212135

Gene: CAD

Linked Data

• gnomAD v4: 2-27232215-C-G
• MyVariant Identifiers: chr2:g.27455083C>G (hg19) ; chr2:g.27232215C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232215C>G , CM000664.2:g.27232215C>G	GRCh38
NC_000002.11:g.27455083C>G , CM000664.1:g.27455083C>G	GRCh37
NC_000002.10:g.27308587C>G	NCBI36
NG_046394.1:g.19826C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2636C>G MANE Select	ENSP00000264705.3:p.Ala879Gly
ENST00000264705.8:c.2636C>G	ENSP00000264705.3:p.Ala879Gly
ENST00000403525.5:c.2447C>G	ENSP00000384510.1:p.Ala816Gly
ENST00000464159.1:n.384C>G
NM_001306079.1:c.2447C>G	NP_001293008.1:p.Ala816Gly
NM_004341.3:c.2636C>G	NP_004332.2:p.Ala879Gly
NM_004341.4:c.2636C>G	NP_004332.2:p.Ala879Gly
XM_005264555.2:c.2636C>G	XP_005264612.1:p.Ala879Gly
XM_005264556.2:c.2636C>G	XP_005264613.1:p.Ala879Gly
XM_005264557.2:c.2636C>G	XP_005264614.1:p.Ala879Gly
XM_006712101.1:c.2447C>G	XP_006712164.1:p.Ala816Gly
XM_006712101.3:c.2447C>G	XP_006712164.1:p.Ala816Gly
XM_024453131.1:c.362C>G	XP_024308899.1:p.Ala121Gly
NM_004341.5:c.2636C>G MANE Select	NP_004332.2:p.Ala879Gly
NM_001306079.2:c.2447C>G	NP_001293008.1:p.Ala816Gly