Canonical Allele Identifier: CA346212144

Gene: CAD

Linked Data

• MyVariant Identifiers: chr2:g.27455089T>A (hg19) ; chr2:g.27232221T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232221T>A , CM000664.2:g.27232221T>A	GRCh38
NC_000002.11:g.27455089T>A , CM000664.1:g.27455089T>A	GRCh37
NC_000002.10:g.27308593T>A	NCBI36
NG_046394.1:g.19832T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2642T>A MANE Select	ENSP00000264705.3:p.Leu881Gln
ENST00000264705.8:c.2642T>A	ENSP00000264705.3:p.Leu881Gln
ENST00000403525.5:c.2453T>A	ENSP00000384510.1:p.Leu818Gln
ENST00000464159.1:n.390T>A
NM_001306079.1:c.2453T>A	NP_001293008.1:p.Leu818Gln
NM_004341.3:c.2642T>A	NP_004332.2:p.Leu881Gln
NM_004341.4:c.2642T>A	NP_004332.2:p.Leu881Gln
XM_005264555.2:c.2642T>A	XP_005264612.1:p.Leu881Gln
XM_005264556.2:c.2642T>A	XP_005264613.1:p.Leu881Gln
XM_005264557.2:c.2642T>A	XP_005264614.1:p.Leu881Gln
XM_006712101.1:c.2453T>A	XP_006712164.1:p.Leu818Gln
XM_006712101.3:c.2453T>A	XP_006712164.1:p.Leu818Gln
XM_024453131.1:c.368T>A	XP_024308899.1:p.Leu123Gln
NM_004341.5:c.2642T>A MANE Select	NP_004332.2:p.Leu881Gln
NM_001306079.2:c.2453T>A	NP_001293008.1:p.Leu818Gln