Canonical Allele Identifier: CA347487308

Gene: GGCX

Linked Data

• gnomAD v4: 2-85553242-A-G
• MyVariant Identifiers: chr2:g.85780365A>G (hg19) ; chr2:g.85553242A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553242A>G , CM000664.2:g.85553242A>G	GRCh38
NC_000002.11:g.85780365A>G , CM000664.1:g.85780365A>G	GRCh37
NC_000002.10:g.85633876A>G	NCBI36
NG_011811.2:g.13293T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5189T>C
ENST00000482662.2:n.3596T>C
ENST00000685865.1:n.1548T>C
ENST00000687250.1:n.1248T>C
ENST00000687995.1:n.1497T>C
ENST00000688205.1:c.*738T>C	ENSP00000509673.1:n.*738T>C
ENST00000688788.1:n.1384T>C
ENST00000689276.1:c.1076T>C	ENSP00000510012.1:p.Phe359Ser
ENST00000689576.1:c.1145T>C	ENSP00000508712.1:p.Phe382Ser
ENST00000690108.1:c.*801T>C	ENSP00000510617.1:n.*801T>C
ENST00000690468.1:c.866T>C	ENSP00000509078.1:p.Phe289Ser
ENST00000690595.1:c.470T>C	ENSP00000508979.1:p.Phe157Ser
ENST00000691348.1:c.974T>C	ENSP00000509369.1:p.Phe325Ser
ENST00000691410.1:c.*722T>C	ENSP00000508479.1:n.*722T>C
ENST00000693287.1:c.461T>C	ENSP00000510264.1:p.Phe154Ser
ENST00000693681.1:c.458T>C	ENSP00000510789.1:p.Phe153Ser
ENST00000233838.9:c.1145T>C MANE Select	ENSP00000233838.3:p.Phe382Ser
ENST00000233838.8:c.1145T>C	ENSP00000233838.3:p.Phe382Ser
ENST00000430215.7:c.974T>C	ENSP00000408045.3:p.Phe325Ser
ENST00000465637.5:n.179-5238T>C
ENST00000473665.1:n.638T>C
ENST00000482662.1:n.562T>C
NM_000821.5:c.1145T>C	NP_000812.2:p.Phe382Ser
NM_000821.6:c.1145T>C	NP_000812.2:p.Phe382Ser
NM_001142269.2:c.974T>C	NP_001135741.1:p.Phe325Ser
NM_001142269.3:c.974T>C	NP_001135741.1:p.Phe325Ser
XM_005264259.3:c.1145T>C	XP_005264316.1:p.Phe382Ser
XM_011532764.1:c.323T>C	XP_011531066.1:p.Phe108Ser
XM_011532765.1:c.323T>C	XP_011531067.1:p.Phe108Ser
XR_939677.1:n.1210T>C
XM_005264259.5:c.1145T>C	XP_005264316.1:p.Phe382Ser
XM_011532764.3:c.323T>C	XP_011531066.1:p.Phe108Ser
XM_011532765.3:c.323T>C	XP_011531067.1:p.Phe108Ser
XM_017003803.2:c.974T>C	XP_016859292.1:p.Phe325Ser
XR_001738703.2:n.1210T>C
NM_000821.7:c.1145T>C MANE Select	NP_000812.2:p.Phe382Ser
NM_001142269.4:c.974T>C	NP_001135741.1:p.Phe325Ser