Canonical Allele Identifier: CA346211277

Gene: CAD

Linked Data

• MyVariant Identifiers: chr2:g.27454893G>T (hg19) ; chr2:g.27232025G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232025G>T , CM000664.2:g.27232025G>T	GRCh38
NC_000002.11:g.27454893G>T , CM000664.1:g.27454893G>T	GRCh37
NC_000002.10:g.27308397G>T	NCBI36
NG_046394.1:g.19636G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2446G>T MANE Select	ENSP00000264705.3:p.Ala816Ser
ENST00000264705.8:c.2446G>T	ENSP00000264705.3:p.Ala816Ser
ENST00000403525.5:c.2257G>T	ENSP00000384510.1:p.Ala753Ser
ENST00000464159.1:n.194G>T
NM_001306079.1:c.2257G>T	NP_001293008.1:p.Ala753Ser
NM_004341.3:c.2446G>T	NP_004332.2:p.Ala816Ser
NM_004341.4:c.2446G>T	NP_004332.2:p.Ala816Ser
XM_005264555.2:c.2446G>T	XP_005264612.1:p.Ala816Ser
XM_005264556.2:c.2446G>T	XP_005264613.1:p.Ala816Ser
XM_005264557.2:c.2446G>T	XP_005264614.1:p.Ala816Ser
XM_006712101.1:c.2257G>T	XP_006712164.1:p.Ala753Ser
XM_006712101.3:c.2257G>T	XP_006712164.1:p.Ala753Ser
XM_024453131.1:c.172G>T	XP_024308899.1:p.Ala58Ser
NM_004341.5:c.2446G>T MANE Select	NP_004332.2:p.Ala816Ser
NM_001306079.2:c.2257G>T	NP_001293008.1:p.Ala753Ser