Canonical Allele Identifier: CA347484946

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779037G>A (hg19) ; chr2:g.85551914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551914G>A , CM000664.2:g.85551914G>A	GRCh38
NC_000002.11:g.85779037G>A , CM000664.1:g.85779037G>A	GRCh37
NC_000002.10:g.85632548G>A	NCBI36
NG_011811.2:g.14621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5985C>T
ENST00000482662.2:n.4392C>T
ENST00000685865.1:n.2344C>T
ENST00000687250.1:n.2044C>T
ENST00000687995.1:n.1859C>T
ENST00000688205.1:c.*1100C>T	ENSP00000509673.1:n.*1100C>T
ENST00000688788.1:n.1746C>T
ENST00000689276.1:c.1438C>T	ENSP00000510012.1:p.Gln480Ter
ENST00000689576.1:c.*126C>T	ENSP00000508712.1:n.*126C>T
ENST00000690108.1:c.*1163C>T	ENSP00000510617.1:n.*1163C>T
ENST00000690468.1:c.*59C>T	ENSP00000509078.1:n.*59C>T
ENST00000690595.1:c.832C>T	ENSP00000508979.1:p.Gln278Ter
ENST00000691348.1:c.*59C>T	ENSP00000509369.1:n.*59C>T
ENST00000691410.1:c.*1084C>T	ENSP00000508479.1:n.*1084C>T
ENST00000693287.1:c.823C>T	ENSP00000510264.1:p.Gln275Ter
ENST00000693681.1:c.820C>T	ENSP00000510789.1:p.Gln274Ter
ENST00000233838.9:c.1507C>T MANE Select	ENSP00000233838.3:p.Gln503Ter
ENST00000233838.8:c.1507C>T	ENSP00000233838.3:p.Gln503Ter
ENST00000430215.7:c.1336C>T	ENSP00000408045.3:p.Gln446Ter
ENST00000465637.5:n.179-3910C>T
NM_000821.5:c.1507C>T	NP_000812.2:p.Gln503Ter
NM_000821.6:c.1507C>T	NP_000812.2:p.Gln503Ter
NM_001142269.2:c.1336C>T	NP_001135741.1:p.Gln446Ter
NM_001142269.3:c.1336C>T	NP_001135741.1:p.Gln446Ter
XM_005264259.3:c.1507C>T	XP_005264316.1:p.Gln503Ter
XM_011532764.1:c.685C>T	XP_011531066.1:p.Gln229Ter
XM_011532765.1:c.685C>T	XP_011531067.1:p.Gln229Ter
XR_939677.1:n.1420C>T
XM_005264259.5:c.1507C>T	XP_005264316.1:p.Gln503Ter
XM_011532764.3:c.685C>T	XP_011531066.1:p.Gln229Ter
XM_011532765.3:c.685C>T	XP_011531067.1:p.Gln229Ter
XM_017003803.2:c.1336C>T	XP_016859292.1:p.Gln446Ter
XR_001738703.2:n.1420C>T
NM_000821.7:c.1507C>T MANE Select	NP_000812.2:p.Gln503Ter
NM_001142269.4:c.1336C>T	NP_001135741.1:p.Gln446Ter