Canonical Allele Identifier: CA346211339

Gene: CAD

Linked Data

• dbSNP Id: rs1216568269
• gnomAD v2: 2-27454911-T-C
• gnomAD v4: 2-27232043-T-C
• MyVariant Identifiers: chr2:g.27454911T>C (hg19) ; chr2:g.27232043T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232043T>C , CM000664.2:g.27232043T>C	GRCh38
NC_000002.11:g.27454911T>C , CM000664.1:g.27454911T>C	GRCh37
NC_000002.10:g.27308415T>C	NCBI36
NG_046394.1:g.19654T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2464T>C MANE Select	ENSP00000264705.3:p.Ser822Pro
ENST00000264705.8:c.2464T>C	ENSP00000264705.3:p.Ser822Pro
ENST00000403525.5:c.2275T>C	ENSP00000384510.1:p.Ser759Pro
ENST00000464159.1:n.212T>C
NM_001306079.1:c.2275T>C	NP_001293008.1:p.Ser759Pro
NM_004341.3:c.2464T>C	NP_004332.2:p.Ser822Pro
NM_004341.4:c.2464T>C	NP_004332.2:p.Ser822Pro
XM_005264555.2:c.2464T>C	XP_005264612.1:p.Ser822Pro
XM_005264556.2:c.2464T>C	XP_005264613.1:p.Ser822Pro
XM_005264557.2:c.2464T>C	XP_005264614.1:p.Ser822Pro
XM_006712101.1:c.2275T>C	XP_006712164.1:p.Ser759Pro
XM_006712101.3:c.2275T>C	XP_006712164.1:p.Ser759Pro
XM_024453131.1:c.190T>C	XP_024308899.1:p.Ser64Pro
NM_004341.5:c.2464T>C MANE Select	NP_004332.2:p.Ser822Pro
NM_001306079.2:c.2275T>C	NP_001293008.1:p.Ser759Pro