Canonical Allele Identifier: CA347487345

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780373A>C (hg19) ; chr2:g.85553250A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553250A>C , CM000664.2:g.85553250A>C	GRCh38
NC_000002.11:g.85780373A>C , CM000664.1:g.85780373A>C	GRCh37
NC_000002.10:g.85633884A>C	NCBI36
NG_011811.2:g.13285T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5181T>G
ENST00000482662.2:n.3588T>G
ENST00000685865.1:n.1540T>G
ENST00000687250.1:n.1240T>G
ENST00000687995.1:n.1489T>G
ENST00000688205.1:c.*730T>G	ENSP00000509673.1:n.*730T>G
ENST00000688788.1:n.1376T>G
ENST00000689276.1:c.1068T>G	ENSP00000510012.1:p.Tyr356Ter
ENST00000689576.1:c.1137T>G	ENSP00000508712.1:p.Tyr379Ter
ENST00000690108.1:c.*793T>G	ENSP00000510617.1:n.*793T>G
ENST00000690468.1:c.858T>G	ENSP00000509078.1:p.Tyr286Ter
ENST00000690595.1:c.462T>G	ENSP00000508979.1:p.Tyr154Ter
ENST00000691348.1:c.966T>G	ENSP00000509369.1:p.Tyr322Ter
ENST00000691410.1:c.*714T>G	ENSP00000508479.1:n.*714T>G
ENST00000693287.1:c.453T>G	ENSP00000510264.1:p.Tyr151Ter
ENST00000693681.1:c.450T>G	ENSP00000510789.1:p.Tyr150Ter
ENST00000233838.9:c.1137T>G MANE Select	ENSP00000233838.3:p.Tyr379Ter
ENST00000233838.8:c.1137T>G	ENSP00000233838.3:p.Tyr379Ter
ENST00000430215.7:c.966T>G	ENSP00000408045.3:p.Tyr322Ter
ENST00000465637.5:n.179-5246T>G
ENST00000473665.1:n.630T>G
ENST00000482662.1:n.554T>G
NM_000821.5:c.1137T>G	NP_000812.2:p.Tyr379Ter
NM_000821.6:c.1137T>G	NP_000812.2:p.Tyr379Ter
NM_001142269.2:c.966T>G	NP_001135741.1:p.Tyr322Ter
NM_001142269.3:c.966T>G	NP_001135741.1:p.Tyr322Ter
XM_005264259.3:c.1137T>G	XP_005264316.1:p.Tyr379Ter
XM_011532764.1:c.315T>G	XP_011531066.1:p.Tyr105Ter
XM_011532765.1:c.315T>G	XP_011531067.1:p.Tyr105Ter
XR_939677.1:n.1202T>G
XM_005264259.5:c.1137T>G	XP_005264316.1:p.Tyr379Ter
XM_011532764.3:c.315T>G	XP_011531066.1:p.Tyr105Ter
XM_011532765.3:c.315T>G	XP_011531067.1:p.Tyr105Ter
XM_017003803.2:c.966T>G	XP_016859292.1:p.Tyr322Ter
XR_001738703.2:n.1202T>G
NM_000821.7:c.1137T>G MANE Select	NP_000812.2:p.Tyr379Ter
NM_001142269.4:c.966T>G	NP_001135741.1:p.Tyr322Ter