Canonical Allele Identifier: CA347485080

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779101A>C (hg19) ; chr2:g.85551978A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551978A>C , CM000664.2:g.85551978A>C	GRCh38
NC_000002.11:g.85779101A>C , CM000664.1:g.85779101A>C	GRCh37
NC_000002.10:g.85632612A>C	NCBI36
NG_011811.2:g.14557T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5921T>G
ENST00000482662.2:n.4328T>G
ENST00000685865.1:n.2280T>G
ENST00000687250.1:n.1980T>G
ENST00000687995.1:n.1795T>G
ENST00000688205.1:c.*1036T>G	ENSP00000509673.1:n.*1036T>G
ENST00000688788.1:n.1682T>G
ENST00000689276.1:c.1374T>G	ENSP00000510012.1:p.Ile458Met
ENST00000689576.1:c.*62T>G	ENSP00000508712.1:n.*62T>G
ENST00000690108.1:c.*1099T>G	ENSP00000510617.1:n.*1099T>G
ENST00000690468.1:c.1012T>G	ENSP00000509078.1:p.Phe338Val
ENST00000690595.1:c.768T>G	ENSP00000508979.1:p.Ile256Met
ENST00000691348.1:c.1120T>G	ENSP00000509369.1:p.Phe374Val
ENST00000691410.1:c.*1020T>G	ENSP00000508479.1:n.*1020T>G
ENST00000693287.1:c.759T>G	ENSP00000510264.1:p.Ile253Met
ENST00000693681.1:c.756T>G	ENSP00000510789.1:p.Ile252Met
ENST00000233838.9:c.1443T>G MANE Select	ENSP00000233838.3:p.Ile481Met
ENST00000233838.8:c.1443T>G	ENSP00000233838.3:p.Ile481Met
ENST00000430215.7:c.1272T>G	ENSP00000408045.3:p.Ile424Met
ENST00000465637.5:n.179-3974T>G
NM_000821.5:c.1443T>G	NP_000812.2:p.Ile481Met
NM_000821.6:c.1443T>G	NP_000812.2:p.Ile481Met
NM_001142269.2:c.1272T>G	NP_001135741.1:p.Ile424Met
NM_001142269.3:c.1272T>G	NP_001135741.1:p.Ile424Met
XM_005264259.3:c.1443T>G	XP_005264316.1:p.Ile481Met
XM_011532764.1:c.621T>G	XP_011531066.1:p.Ile207Met
XM_011532765.1:c.621T>G	XP_011531067.1:p.Ile207Met
XR_939677.1:n.1356T>G
XM_005264259.5:c.1443T>G	XP_005264316.1:p.Ile481Met
XM_011532764.3:c.621T>G	XP_011531066.1:p.Ile207Met
XM_011532765.3:c.621T>G	XP_011531067.1:p.Ile207Met
XM_017003803.2:c.1272T>G	XP_016859292.1:p.Ile424Met
XR_001738703.2:n.1356T>G
NM_000821.7:c.1443T>G MANE Select	NP_000812.2:p.Ile481Met
NM_001142269.4:c.1272T>G	NP_001135741.1:p.Ile424Met