Canonical Allele Identifier: CA425384849
Gene: CAD HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27454940C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27232072C>T , CM000664.2:g.27232072C>T GRCh38
NC_000002.11:g.27454940C>T , CM000664.1:g.27454940C>T GRCh37
NC_000002.10:g.27308444C>T NCBI36
NG_046394.1:g.19683C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264705.9:c.2493C>T MANE Select ENSP00000264705.3:p.Arg831=
ENST00000264705.8:c.2493C>T ENSP00000264705.3:p.Arg831=
ENST00000403525.5:c.2304C>T ENSP00000384510.1:p.Arg768=
ENST00000464159.1:n.241C>T
NM_001306079.1:c.2304C>T NP_001293008.1:p.Arg768=
NM_004341.3:c.2493C>T NP_004332.2:p.Arg831=
NM_004341.4:c.2493C>T NP_004332.2:p.Arg831=
XM_005264555.2:c.2493C>T XP_005264612.1:p.Arg831=
XM_005264556.2:c.2493C>T XP_005264613.1:p.Arg831=
XM_005264557.2:c.2493C>T XP_005264614.1:p.Arg831=
XM_006712101.1:c.2304C>T XP_006712164.1:p.Arg768=
XM_006712101.3:c.2304C>T XP_006712164.1:p.Arg768=
XM_024453131.1:c.219C>T XP_024308899.1:p.Arg73=
NM_004341.5:c.2493C>T MANE Select NP_004332.2:p.Arg831=
NM_001306079.2:c.2304C>T NP_001293008.1:p.Arg768=