Canonical Allele Identifier: CA425384815
Gene: CAD HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27454895T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27232027T>G , CM000664.2:g.27232027T>G GRCh38
NC_000002.11:g.27454895T>G , CM000664.1:g.27454895T>G GRCh37
NC_000002.10:g.27308399T>G NCBI36
NG_046394.1:g.19638T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264705.9:c.2448T>G MANE Select ENSP00000264705.3:p.Ala816=
ENST00000264705.8:c.2448T>G ENSP00000264705.3:p.Ala816=
ENST00000403525.5:c.2259T>G ENSP00000384510.1:p.Ala753=
ENST00000464159.1:n.196T>G
NM_001306079.1:c.2259T>G NP_001293008.1:p.Ala753=
NM_004341.3:c.2448T>G NP_004332.2:p.Ala816=
NM_004341.4:c.2448T>G NP_004332.2:p.Ala816=
XM_005264555.2:c.2448T>G XP_005264612.1:p.Ala816=
XM_005264556.2:c.2448T>G XP_005264613.1:p.Ala816=
XM_005264557.2:c.2448T>G XP_005264614.1:p.Ala816=
XM_006712101.1:c.2259T>G XP_006712164.1:p.Ala753=
XM_006712101.3:c.2259T>G XP_006712164.1:p.Ala753=
XM_024453131.1:c.174T>G XP_024308899.1:p.Ala58=
NM_004341.5:c.2448T>G MANE Select NP_004332.2:p.Ala816=
NM_001306079.2:c.2259T>G NP_001293008.1:p.Ala753=