Canonical Allele Identifier: CA425384872
Gene: CAD HGNC NCBI

Linked Data

gnomAD v4: 2-27232114-A-G
MyVariant Identifiers: chr2:g.27454982A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27232114A>G , CM000664.2:g.27232114A>G GRCh38
NC_000002.11:g.27454982A>G , CM000664.1:g.27454982A>G GRCh37
NC_000002.10:g.27308486A>G NCBI36
NG_046394.1:g.19725A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264705.9:c.2535A>G MANE Select ENSP00000264705.3:p.Ala845=
ENST00000264705.8:c.2535A>G ENSP00000264705.3:p.Ala845=
ENST00000403525.5:c.2346A>G ENSP00000384510.1:p.Ala782=
ENST00000464159.1:n.283A>G
NM_001306079.1:c.2346A>G NP_001293008.1:p.Ala782=
NM_004341.3:c.2535A>G NP_004332.2:p.Ala845=
NM_004341.4:c.2535A>G NP_004332.2:p.Ala845=
XM_005264555.2:c.2535A>G XP_005264612.1:p.Ala845=
XM_005264556.2:c.2535A>G XP_005264613.1:p.Ala845=
XM_005264557.2:c.2535A>G XP_005264614.1:p.Ala845=
XM_006712101.1:c.2346A>G XP_006712164.1:p.Ala782=
XM_006712101.3:c.2346A>G XP_006712164.1:p.Ala782=
XM_024453131.1:c.261A>G XP_024308899.1:p.Ala87=
NM_004341.5:c.2535A>G MANE Select NP_004332.2:p.Ala845=
NM_001306079.2:c.2346A>G NP_001293008.1:p.Ala782=