Canonical Allele Identifier: CA347486813

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780072A>G (hg19) ; chr2:g.85552949A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85552949A>G , CM000664.2:g.85552949A>G	GRCh38
NC_000002.11:g.85780072A>G , CM000664.1:g.85780072A>G	GRCh37
NC_000002.10:g.85633583A>G	NCBI36
NG_011811.2:g.13586T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5321T>C
ENST00000482662.2:n.3728T>C
ENST00000685865.1:n.1680T>C
ENST00000687250.1:n.1380T>C
ENST00000687995.1:n.1629T>C
ENST00000688205.1:c.*870T>C	ENSP00000509673.1:n.*870T>C
ENST00000688788.1:n.1516T>C
ENST00000689276.1:c.1208T>C	ENSP00000510012.1:p.Leu403Pro
ENST00000689576.1:c.1277T>C	ENSP00000508712.1:p.Leu426Pro
ENST00000690108.1:c.*933T>C	ENSP00000510617.1:n.*933T>C
ENST00000690468.1:c.998T>C	ENSP00000509078.1:p.Leu333Pro
ENST00000690595.1:c.602T>C	ENSP00000508979.1:p.Leu201Pro
ENST00000691348.1:c.1106T>C	ENSP00000509369.1:p.Leu369Pro
ENST00000691410.1:c.*854T>C	ENSP00000508479.1:n.*854T>C
ENST00000693287.1:c.593T>C	ENSP00000510264.1:p.Leu198Pro
ENST00000693681.1:c.590T>C	ENSP00000510789.1:p.Leu197Pro
ENST00000233838.9:c.1277T>C MANE Select	ENSP00000233838.3:p.Leu426Pro
ENST00000233838.8:c.1277T>C	ENSP00000233838.3:p.Leu426Pro
ENST00000430215.7:c.1106T>C	ENSP00000408045.3:p.Leu369Pro
ENST00000465637.5:n.179-4945T>C
ENST00000473665.1:n.770T>C
ENST00000482662.1:n.694T>C
NM_000821.5:c.1277T>C	NP_000812.2:p.Leu426Pro
NM_000821.6:c.1277T>C	NP_000812.2:p.Leu426Pro
NM_001142269.2:c.1106T>C	NP_001135741.1:p.Leu369Pro
NM_001142269.3:c.1106T>C	NP_001135741.1:p.Leu369Pro
XM_005264259.3:c.1277T>C	XP_005264316.1:p.Leu426Pro
XM_011532764.1:c.455T>C	XP_011531066.1:p.Leu152Pro
XM_011532765.1:c.455T>C	XP_011531067.1:p.Leu152Pro
XR_939677.1:n.1342T>C
XM_005264259.5:c.1277T>C	XP_005264316.1:p.Leu426Pro
XM_011532764.3:c.455T>C	XP_011531066.1:p.Leu152Pro
XM_011532765.3:c.455T>C	XP_011531067.1:p.Leu152Pro
XM_017003803.2:c.1106T>C	XP_016859292.1:p.Leu369Pro
XR_001738703.2:n.1342T>C
NM_000821.7:c.1277T>C MANE Select	NP_000812.2:p.Leu426Pro
NM_001142269.4:c.1106T>C	NP_001135741.1:p.Leu369Pro