Canonical Allele Identifier: CA347487314

Gene: GGCX

Linked Data

• gnomAD v4: 2-85553243-A-G
• MyVariant Identifiers: chr2:g.85780366A>G (hg19) ; chr2:g.85553243A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553243A>G , CM000664.2:g.85553243A>G	GRCh38
NC_000002.11:g.85780366A>G , CM000664.1:g.85780366A>G	GRCh37
NC_000002.10:g.85633877A>G	NCBI36
NG_011811.2:g.13292T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5188T>C
ENST00000482662.2:n.3595T>C
ENST00000685865.1:n.1547T>C
ENST00000687250.1:n.1247T>C
ENST00000687995.1:n.1496T>C
ENST00000688205.1:c.*737T>C	ENSP00000509673.1:n.*737T>C
ENST00000688788.1:n.1383T>C
ENST00000689276.1:c.1075T>C	ENSP00000510012.1:p.Phe359Leu
ENST00000689576.1:c.1144T>C	ENSP00000508712.1:p.Phe382Leu
ENST00000690108.1:c.*800T>C	ENSP00000510617.1:n.*800T>C
ENST00000690468.1:c.865T>C	ENSP00000509078.1:p.Phe289Leu
ENST00000690595.1:c.469T>C	ENSP00000508979.1:p.Phe157Leu
ENST00000691348.1:c.973T>C	ENSP00000509369.1:p.Phe325Leu
ENST00000691410.1:c.*721T>C	ENSP00000508479.1:n.*721T>C
ENST00000693287.1:c.460T>C	ENSP00000510264.1:p.Phe154Leu
ENST00000693681.1:c.457T>C	ENSP00000510789.1:p.Phe153Leu
ENST00000233838.9:c.1144T>C MANE Select	ENSP00000233838.3:p.Phe382Leu
ENST00000233838.8:c.1144T>C	ENSP00000233838.3:p.Phe382Leu
ENST00000430215.7:c.973T>C	ENSP00000408045.3:p.Phe325Leu
ENST00000465637.5:n.179-5239T>C
ENST00000473665.1:n.637T>C
ENST00000482662.1:n.561T>C
NM_000821.5:c.1144T>C	NP_000812.2:p.Phe382Leu
NM_000821.6:c.1144T>C	NP_000812.2:p.Phe382Leu
NM_001142269.2:c.973T>C	NP_001135741.1:p.Phe325Leu
NM_001142269.3:c.973T>C	NP_001135741.1:p.Phe325Leu
XM_005264259.3:c.1144T>C	XP_005264316.1:p.Phe382Leu
XM_011532764.1:c.322T>C	XP_011531066.1:p.Phe108Leu
XM_011532765.1:c.322T>C	XP_011531067.1:p.Phe108Leu
XR_939677.1:n.1209T>C
XM_005264259.5:c.1144T>C	XP_005264316.1:p.Phe382Leu
XM_011532764.3:c.322T>C	XP_011531066.1:p.Phe108Leu
XM_011532765.3:c.322T>C	XP_011531067.1:p.Phe108Leu
XM_017003803.2:c.973T>C	XP_016859292.1:p.Phe325Leu
XR_001738703.2:n.1209T>C
NM_000821.7:c.1144T>C MANE Select	NP_000812.2:p.Phe382Leu
NM_001142269.4:c.973T>C	NP_001135741.1:p.Phe325Leu