Canonical Allele Identifier: CA346211127

Gene: CAD

Linked Data

• MyVariant Identifiers: chr2:g.27454848G>A (hg19) ; chr2:g.27231980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27231980G>A , CM000664.2:g.27231980G>A	GRCh38
NC_000002.11:g.27454848G>A , CM000664.1:g.27454848G>A	GRCh37
NC_000002.10:g.27308352G>A	NCBI36
NG_046394.1:g.19591G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2401G>A MANE Select	ENSP00000264705.3:p.Glu801Lys
ENST00000264705.8:c.2401G>A	ENSP00000264705.3:p.Glu801Lys
ENST00000403525.5:c.2212G>A	ENSP00000384510.1:p.Glu738Lys
ENST00000464159.1:n.149G>A
NM_001306079.1:c.2212G>A	NP_001293008.1:p.Glu738Lys
NM_004341.3:c.2401G>A	NP_004332.2:p.Glu801Lys
NM_004341.4:c.2401G>A	NP_004332.2:p.Glu801Lys
XM_005264555.2:c.2401G>A	XP_005264612.1:p.Glu801Lys
XM_005264556.2:c.2401G>A	XP_005264613.1:p.Glu801Lys
XM_005264557.2:c.2401G>A	XP_005264614.1:p.Glu801Lys
XM_006712101.1:c.2212G>A	XP_006712164.1:p.Glu738Lys
XM_006712101.3:c.2212G>A	XP_006712164.1:p.Glu738Lys
XM_024453131.1:c.127G>A	XP_024308899.1:p.Glu43Lys
NM_004341.5:c.2401G>A MANE Select	NP_004332.2:p.Glu801Lys
NM_001306079.2:c.2212G>A	NP_001293008.1:p.Glu738Lys