Canonical Allele Identifier: CA347485084

Gene: GGCX

Linked Data

• dbSNP Id: rs2103959376
• MyVariant Identifiers: chr2:g.85779103T>A (hg19) ; chr2:g.85551980T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551980T>A , CM000664.2:g.85551980T>A	GRCh38
NC_000002.11:g.85779103T>A , CM000664.1:g.85779103T>A	GRCh37
NC_000002.10:g.85632614T>A	NCBI36
NG_011811.2:g.14555A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5919A>T
ENST00000482662.2:n.4326A>T
ENST00000685865.1:n.2278A>T
ENST00000687250.1:n.1978A>T
ENST00000687995.1:n.1793A>T
ENST00000688205.1:c.*1034A>T	ENSP00000509673.1:n.*1034A>T
ENST00000688788.1:n.1680A>T
ENST00000689276.1:c.1372A>T	ENSP00000510012.1:p.Ile458Phe
ENST00000689576.1:c.*60A>T	ENSP00000508712.1:n.*60A>T
ENST00000690108.1:c.*1097A>T	ENSP00000510617.1:n.*1097A>T
ENST00000690468.1:c.1010A>T	ENSP00000509078.1:p.Asp337Val
ENST00000690595.1:c.766A>T	ENSP00000508979.1:p.Ile256Phe
ENST00000691348.1:c.1118A>T	ENSP00000509369.1:p.Asp373Val
ENST00000691410.1:c.*1018A>T	ENSP00000508479.1:n.*1018A>T
ENST00000693287.1:c.757A>T	ENSP00000510264.1:p.Ile253Phe
ENST00000693681.1:c.754A>T	ENSP00000510789.1:p.Ile252Phe
ENST00000233838.9:c.1441A>T MANE Select	ENSP00000233838.3:p.Ile481Phe
ENST00000233838.8:c.1441A>T	ENSP00000233838.3:p.Ile481Phe
ENST00000430215.7:c.1270A>T	ENSP00000408045.3:p.Ile424Phe
ENST00000465637.5:n.179-3976A>T
NM_000821.5:c.1441A>T	NP_000812.2:p.Ile481Phe
NM_000821.6:c.1441A>T	NP_000812.2:p.Ile481Phe
NM_001142269.2:c.1270A>T	NP_001135741.1:p.Ile424Phe
NM_001142269.3:c.1270A>T	NP_001135741.1:p.Ile424Phe
XM_005264259.3:c.1441A>T	XP_005264316.1:p.Ile481Phe
XM_011532764.1:c.619A>T	XP_011531066.1:p.Ile207Phe
XM_011532765.1:c.619A>T	XP_011531067.1:p.Ile207Phe
XR_939677.1:n.1354A>T
XM_005264259.5:c.1441A>T	XP_005264316.1:p.Ile481Phe
XM_011532764.3:c.619A>T	XP_011531066.1:p.Ile207Phe
XM_011532765.3:c.619A>T	XP_011531067.1:p.Ile207Phe
XM_017003803.2:c.1270A>T	XP_016859292.1:p.Ile424Phe
XR_001738703.2:n.1354A>T
NM_000821.7:c.1441A>T MANE Select	NP_000812.2:p.Ile481Phe
NM_001142269.4:c.1270A>T	NP_001135741.1:p.Ile424Phe