Canonical Allele Identifier: CA347485005

Gene: GGCX

Linked Data

• dbSNP Id: rs1486505438
• gnomAD v2: 2-85779065-C-A
• MyVariant Identifiers: chr2:g.85779065C>A (hg19) ; chr2:g.85551942C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551942C>A , CM000664.2:g.85551942C>A	GRCh38
NC_000002.11:g.85779065C>A , CM000664.1:g.85779065C>A	GRCh37
NC_000002.10:g.85632576C>A	NCBI36
NG_011811.2:g.14593G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5957G>T
ENST00000482662.2:n.4364G>T
ENST00000685865.1:n.2316G>T
ENST00000687250.1:n.2016G>T
ENST00000687995.1:n.1831G>T
ENST00000688205.1:c.*1072G>T	ENSP00000509673.1:n.*1072G>T
ENST00000688788.1:n.1718G>T
ENST00000689276.1:c.1410G>T	ENSP00000510012.1:p.Trp470Cys
ENST00000689576.1:c.*98G>T	ENSP00000508712.1:n.*98G>T
ENST00000690108.1:c.*1135G>T	ENSP00000510617.1:n.*1135G>T
ENST00000690468.1:c.*31G>T	ENSP00000509078.1:n.*31G>T
ENST00000690595.1:c.804G>T	ENSP00000508979.1:p.Trp268Cys
ENST00000691348.1:c.*31G>T	ENSP00000509369.1:n.*31G>T
ENST00000691410.1:c.*1056G>T	ENSP00000508479.1:n.*1056G>T
ENST00000693287.1:c.795G>T	ENSP00000510264.1:p.Trp265Cys
ENST00000693681.1:c.792G>T	ENSP00000510789.1:p.Trp264Cys
ENST00000233838.9:c.1479G>T MANE Select	ENSP00000233838.3:p.Trp493Cys
ENST00000233838.8:c.1479G>T	ENSP00000233838.3:p.Trp493Cys
ENST00000430215.7:c.1308G>T	ENSP00000408045.3:p.Trp436Cys
ENST00000465637.5:n.179-3938G>T
NM_000821.5:c.1479G>T	NP_000812.2:p.Trp493Cys
NM_000821.6:c.1479G>T	NP_000812.2:p.Trp493Cys
NM_001142269.2:c.1308G>T	NP_001135741.1:p.Trp436Cys
NM_001142269.3:c.1308G>T	NP_001135741.1:p.Trp436Cys
XM_005264259.3:c.1479G>T	XP_005264316.1:p.Trp493Cys
XM_011532764.1:c.657G>T	XP_011531066.1:p.Trp219Cys
XM_011532765.1:c.657G>T	XP_011531067.1:p.Trp219Cys
XR_939677.1:n.1392G>T
XM_005264259.5:c.1479G>T	XP_005264316.1:p.Trp493Cys
XM_011532764.3:c.657G>T	XP_011531066.1:p.Trp219Cys
XM_011532765.3:c.657G>T	XP_011531067.1:p.Trp219Cys
XM_017003803.2:c.1308G>T	XP_016859292.1:p.Trp436Cys
XR_001738703.2:n.1392G>T
NM_000821.7:c.1479G>T MANE Select	NP_000812.2:p.Trp493Cys
NM_001142269.4:c.1308G>T	NP_001135741.1:p.Trp436Cys