Canonical Allele Identifier: CA346211554

Gene: CAD

Linked Data

• gnomAD v4: 2-27232103-C-G
• MyVariant Identifiers: chr2:g.27454971C>G (hg19) ; chr2:g.27232103C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232103C>G , CM000664.2:g.27232103C>G	GRCh38
NC_000002.11:g.27454971C>G , CM000664.1:g.27454971C>G	GRCh37
NC_000002.10:g.27308475C>G	NCBI36
NG_046394.1:g.19714C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264705.9:c.2524C>G MANE Select	ENSP00000264705.3:p.Arg842Gly
ENST00000264705.8:c.2524C>G	ENSP00000264705.3:p.Arg842Gly
ENST00000403525.5:c.2335C>G	ENSP00000384510.1:p.Arg779Gly
ENST00000464159.1:n.272C>G
NM_001306079.1:c.2335C>G	NP_001293008.1:p.Arg779Gly
NM_004341.3:c.2524C>G	NP_004332.2:p.Arg842Gly
NM_004341.4:c.2524C>G	NP_004332.2:p.Arg842Gly
XM_005264555.2:c.2524C>G	XP_005264612.1:p.Arg842Gly
XM_005264556.2:c.2524C>G	XP_005264613.1:p.Arg842Gly
XM_005264557.2:c.2524C>G	XP_005264614.1:p.Arg842Gly
XM_006712101.1:c.2335C>G	XP_006712164.1:p.Arg779Gly
XM_006712101.3:c.2335C>G	XP_006712164.1:p.Arg779Gly
XM_024453131.1:c.250C>G	XP_024308899.1:p.Arg84Gly
NM_004341.5:c.2524C>G MANE Select	NP_004332.2:p.Arg842Gly
NM_001306079.2:c.2335C>G	NP_001293008.1:p.Arg779Gly