Canonical Allele Identifier: CA425384868
Gene: CAD HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27454976C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27232108C>A , CM000664.2:g.27232108C>A GRCh38
NC_000002.11:g.27454976C>A , CM000664.1:g.27454976C>A GRCh37
NC_000002.10:g.27308480C>A NCBI36
NG_046394.1:g.19719C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264705.9:c.2529C>A MANE Select ENSP00000264705.3:p.Ile843=
ENST00000264705.8:c.2529C>A ENSP00000264705.3:p.Ile843=
ENST00000403525.5:c.2340C>A ENSP00000384510.1:p.Ile780=
ENST00000464159.1:n.277C>A
NM_001306079.1:c.2340C>A NP_001293008.1:p.Ile780=
NM_004341.3:c.2529C>A NP_004332.2:p.Ile843=
NM_004341.4:c.2529C>A NP_004332.2:p.Ile843=
XM_005264555.2:c.2529C>A XP_005264612.1:p.Ile843=
XM_005264556.2:c.2529C>A XP_005264613.1:p.Ile843=
XM_005264557.2:c.2529C>A XP_005264614.1:p.Ile843=
XM_006712101.1:c.2340C>A XP_006712164.1:p.Ile780=
XM_006712101.3:c.2340C>A XP_006712164.1:p.Ile780=
XM_024453131.1:c.255C>A XP_024308899.1:p.Ile85=
NM_004341.5:c.2529C>A MANE Select NP_004332.2:p.Ile843=
NM_001306079.2:c.2340C>A NP_001293008.1:p.Ile780=