Canonical Allele Identifier: CA347484996

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779060G>T (hg19) ; chr2:g.85551937G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551937G>T , CM000664.2:g.85551937G>T	GRCh38
NC_000002.11:g.85779060G>T , CM000664.1:g.85779060G>T	GRCh37
NC_000002.10:g.85632571G>T	NCBI36
NG_011811.2:g.14598C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5962C>A
ENST00000482662.2:n.4369C>A
ENST00000685865.1:n.2321C>A
ENST00000687250.1:n.2021C>A
ENST00000687995.1:n.1836C>A
ENST00000688205.1:c.*1077C>A	ENSP00000509673.1:n.*1077C>A
ENST00000688788.1:n.1723C>A
ENST00000689276.1:c.1415C>A	ENSP00000510012.1:p.Pro472His
ENST00000689576.1:c.*103C>A	ENSP00000508712.1:n.*103C>A
ENST00000690108.1:c.*1140C>A	ENSP00000510617.1:n.*1140C>A
ENST00000690468.1:c.*36C>A	ENSP00000509078.1:n.*36C>A
ENST00000690595.1:c.809C>A	ENSP00000508979.1:p.Pro270His
ENST00000691348.1:c.*36C>A	ENSP00000509369.1:n.*36C>A
ENST00000691410.1:c.*1061C>A	ENSP00000508479.1:n.*1061C>A
ENST00000693287.1:c.800C>A	ENSP00000510264.1:p.Pro267His
ENST00000693681.1:c.797C>A	ENSP00000510789.1:p.Pro266His
ENST00000233838.9:c.1484C>A MANE Select	ENSP00000233838.3:p.Pro495His
ENST00000233838.8:c.1484C>A	ENSP00000233838.3:p.Pro495His
ENST00000430215.7:c.1313C>A	ENSP00000408045.3:p.Pro438His
ENST00000465637.5:n.179-3933C>A
NM_000821.5:c.1484C>A	NP_000812.2:p.Pro495His
NM_000821.6:c.1484C>A	NP_000812.2:p.Pro495His
NM_001142269.2:c.1313C>A	NP_001135741.1:p.Pro438His
NM_001142269.3:c.1313C>A	NP_001135741.1:p.Pro438His
XM_005264259.3:c.1484C>A	XP_005264316.1:p.Pro495His
XM_011532764.1:c.662C>A	XP_011531066.1:p.Pro221His
XM_011532765.1:c.662C>A	XP_011531067.1:p.Pro221His
XR_939677.1:n.1397C>A
XM_005264259.5:c.1484C>A	XP_005264316.1:p.Pro495His
XM_011532764.3:c.662C>A	XP_011531066.1:p.Pro221His
XM_011532765.3:c.662C>A	XP_011531067.1:p.Pro221His
XM_017003803.2:c.1313C>A	XP_016859292.1:p.Pro438His
XR_001738703.2:n.1397C>A
NM_000821.7:c.1484C>A MANE Select	NP_000812.2:p.Pro495His
NM_001142269.4:c.1313C>A	NP_001135741.1:p.Pro438His