Canonical Allele Identifier: CA346211203

Gene: CAD

Linked Data

• MyVariant Identifiers: chr2:g.27454870A>C (hg19) ; chr2:g.27232002A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232002A>C , CM000664.2:g.27232002A>C	GRCh38
NC_000002.11:g.27454870A>C , CM000664.1:g.27454870A>C	GRCh37
NC_000002.10:g.27308374A>C	NCBI36
NG_046394.1:g.19613A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2423A>C MANE Select	ENSP00000264705.3:p.Lys808Thr
ENST00000264705.8:c.2423A>C	ENSP00000264705.3:p.Lys808Thr
ENST00000403525.5:c.2234A>C	ENSP00000384510.1:p.Lys745Thr
ENST00000464159.1:n.171A>C
NM_001306079.1:c.2234A>C	NP_001293008.1:p.Lys745Thr
NM_004341.3:c.2423A>C	NP_004332.2:p.Lys808Thr
NM_004341.4:c.2423A>C	NP_004332.2:p.Lys808Thr
XM_005264555.2:c.2423A>C	XP_005264612.1:p.Lys808Thr
XM_005264556.2:c.2423A>C	XP_005264613.1:p.Lys808Thr
XM_005264557.2:c.2423A>C	XP_005264614.1:p.Lys808Thr
XM_006712101.1:c.2234A>C	XP_006712164.1:p.Lys745Thr
XM_006712101.3:c.2234A>C	XP_006712164.1:p.Lys745Thr
XM_024453131.1:c.149A>C	XP_024308899.1:p.Lys50Thr
NM_004341.5:c.2423A>C MANE Select	NP_004332.2:p.Lys808Thr
NM_001306079.2:c.2234A>C	NP_001293008.1:p.Lys745Thr