Canonical Allele Identifier: CA427440041

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780361G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553238G>T , CM000664.2:g.85553238G>T	GRCh38
NC_000002.11:g.85780361G>T , CM000664.1:g.85780361G>T	GRCh37
NC_000002.10:g.85633872G>T	NCBI36
NG_011811.2:g.13297C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5193C>A
ENST00000482662.2:n.3600C>A
ENST00000685865.1:n.1552C>A
ENST00000687250.1:n.1252C>A
ENST00000687995.1:n.1501C>A
ENST00000688205.1:c.*742C>A	ENSP00000509673.1:n.*742C>A
ENST00000688788.1:n.1388C>A
ENST00000689276.1:c.1080C>A	ENSP00000510012.1:p.Leu360=
ENST00000689576.1:c.1149C>A	ENSP00000508712.1:p.Leu383=
ENST00000690108.1:c.*805C>A	ENSP00000510617.1:n.*805C>A
ENST00000690468.1:c.870C>A	ENSP00000509078.1:p.Leu290=
ENST00000690595.1:c.474C>A	ENSP00000508979.1:p.Leu158=
ENST00000691348.1:c.978C>A	ENSP00000509369.1:p.Leu326=
ENST00000691410.1:c.*726C>A	ENSP00000508479.1:n.*726C>A
ENST00000693287.1:c.465C>A	ENSP00000510264.1:p.Leu155=
ENST00000693681.1:c.462C>A	ENSP00000510789.1:p.Leu154=
ENST00000233838.9:c.1149C>A MANE Select	ENSP00000233838.3:p.Leu383=
ENST00000233838.8:c.1149C>A	ENSP00000233838.3:p.Leu383=
ENST00000430215.7:c.978C>A	ENSP00000408045.3:p.Leu326=
ENST00000465637.5:n.179-5234C>A
ENST00000473665.1:n.642C>A
ENST00000482662.1:n.566C>A
NM_000821.5:c.1149C>A	NP_000812.2:p.Leu383=
NM_000821.6:c.1149C>A	NP_000812.2:p.Leu383=
NM_001142269.2:c.978C>A	NP_001135741.1:p.Leu326=
NM_001142269.3:c.978C>A	NP_001135741.1:p.Leu326=
XM_005264259.3:c.1149C>A	XP_005264316.1:p.Leu383=
XM_011532764.1:c.327C>A	XP_011531066.1:p.Leu109=
XM_011532765.1:c.327C>A	XP_011531067.1:p.Leu109=
XR_939677.1:n.1214C>A
XM_005264259.5:c.1149C>A	XP_005264316.1:p.Leu383=
XM_011532764.3:c.327C>A	XP_011531066.1:p.Leu109=
XM_011532765.3:c.327C>A	XP_011531067.1:p.Leu109=
XM_017003803.2:c.978C>A	XP_016859292.1:p.Leu326=
XR_001738703.2:n.1214C>A
NM_000821.7:c.1149C>A MANE Select	NP_000812.2:p.Leu383=
NM_001142269.4:c.978C>A	NP_001135741.1:p.Leu326=