Canonical Allele Identifier: CA346211167

Gene: CAD

Linked Data

• MyVariant Identifiers: chr2:g.27454858C>G (hg19) ; chr2:g.27231990C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27231990C>G , CM000664.2:g.27231990C>G	GRCh38
NC_000002.11:g.27454858C>G , CM000664.1:g.27454858C>G	GRCh37
NC_000002.10:g.27308362C>G	NCBI36
NG_046394.1:g.19601C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2411C>G MANE Select	ENSP00000264705.3:p.Thr804Ser
ENST00000264705.8:c.2411C>G	ENSP00000264705.3:p.Thr804Ser
ENST00000403525.5:c.2222C>G	ENSP00000384510.1:p.Thr741Ser
ENST00000464159.1:n.159C>G
NM_001306079.1:c.2222C>G	NP_001293008.1:p.Thr741Ser
NM_004341.3:c.2411C>G	NP_004332.2:p.Thr804Ser
NM_004341.4:c.2411C>G	NP_004332.2:p.Thr804Ser
XM_005264555.2:c.2411C>G	XP_005264612.1:p.Thr804Ser
XM_005264556.2:c.2411C>G	XP_005264613.1:p.Thr804Ser
XM_005264557.2:c.2411C>G	XP_005264614.1:p.Thr804Ser
XM_006712101.1:c.2222C>G	XP_006712164.1:p.Thr741Ser
XM_006712101.3:c.2222C>G	XP_006712164.1:p.Thr741Ser
XM_024453131.1:c.137C>G	XP_024308899.1:p.Thr46Ser
NM_004341.5:c.2411C>G MANE Select	NP_004332.2:p.Thr804Ser
NM_001306079.2:c.2222C>G	NP_001293008.1:p.Thr741Ser