Canonical Allele Identifier: CA347487320

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780367A>T (hg19) ; chr2:g.85553244A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553244A>T , CM000664.2:g.85553244A>T	GRCh38
NC_000002.11:g.85780367A>T , CM000664.1:g.85780367A>T	GRCh37
NC_000002.10:g.85633878A>T	NCBI36
NG_011811.2:g.13291T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5187T>A
ENST00000482662.2:n.3594T>A
ENST00000685865.1:n.1546T>A
ENST00000687250.1:n.1246T>A
ENST00000687995.1:n.1495T>A
ENST00000688205.1:c.*736T>A	ENSP00000509673.1:n.*736T>A
ENST00000688788.1:n.1382T>A
ENST00000689276.1:c.1074T>A	ENSP00000510012.1:p.His358Gln
ENST00000689576.1:c.1143T>A	ENSP00000508712.1:p.His381Gln
ENST00000690108.1:c.*799T>A	ENSP00000510617.1:n.*799T>A
ENST00000690468.1:c.864T>A	ENSP00000509078.1:p.His288Gln
ENST00000690595.1:c.468T>A	ENSP00000508979.1:p.His156Gln
ENST00000691348.1:c.972T>A	ENSP00000509369.1:p.His324Gln
ENST00000691410.1:c.*720T>A	ENSP00000508479.1:n.*720T>A
ENST00000693287.1:c.459T>A	ENSP00000510264.1:p.His153Gln
ENST00000693681.1:c.456T>A	ENSP00000510789.1:p.His152Gln
ENST00000233838.9:c.1143T>A MANE Select	ENSP00000233838.3:p.His381Gln
ENST00000233838.8:c.1143T>A	ENSP00000233838.3:p.His381Gln
ENST00000430215.7:c.972T>A	ENSP00000408045.3:p.His324Gln
ENST00000465637.5:n.179-5240T>A
ENST00000473665.1:n.636T>A
ENST00000482662.1:n.560T>A
NM_000821.5:c.1143T>A	NP_000812.2:p.His381Gln
NM_000821.6:c.1143T>A	NP_000812.2:p.His381Gln
NM_001142269.2:c.972T>A	NP_001135741.1:p.His324Gln
NM_001142269.3:c.972T>A	NP_001135741.1:p.His324Gln
XM_005264259.3:c.1143T>A	XP_005264316.1:p.His381Gln
XM_011532764.1:c.321T>A	XP_011531066.1:p.His107Gln
XM_011532765.1:c.321T>A	XP_011531067.1:p.His107Gln
XR_939677.1:n.1208T>A
XM_005264259.5:c.1143T>A	XP_005264316.1:p.His381Gln
XM_011532764.3:c.321T>A	XP_011531066.1:p.His107Gln
XM_011532765.3:c.321T>A	XP_011531067.1:p.His107Gln
XM_017003803.2:c.972T>A	XP_016859292.1:p.His324Gln
XR_001738703.2:n.1208T>A
NM_000821.7:c.1143T>A MANE Select	NP_000812.2:p.His381Gln
NM_001142269.4:c.972T>A	NP_001135741.1:p.His324Gln