Canonical Allele Identifier: CA347485069

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779097C>A (hg19) ; chr2:g.85551974C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551974C>A , CM000664.2:g.85551974C>A	GRCh38
NC_000002.11:g.85779097C>A , CM000664.1:g.85779097C>A	GRCh37
NC_000002.10:g.85632608C>A	NCBI36
NG_011811.2:g.14561G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5925G>T
ENST00000482662.2:n.4332G>T
ENST00000685865.1:n.2284G>T
ENST00000687250.1:n.1984G>T
ENST00000687995.1:n.1799G>T
ENST00000688205.1:c.*1040G>T	ENSP00000509673.1:n.*1040G>T
ENST00000688788.1:n.1686G>T
ENST00000689276.1:c.1378G>T	ENSP00000510012.1:p.Asp460Tyr
ENST00000689576.1:c.*66G>T	ENSP00000508712.1:n.*66G>T
ENST00000690108.1:c.*1103G>T	ENSP00000510617.1:n.*1103G>T
ENST00000690468.1:c.1016G>T	ENSP00000509078.1:p.Ter339Leu
ENST00000690595.1:c.772G>T	ENSP00000508979.1:p.Asp258Tyr
ENST00000691348.1:c.1124G>T	ENSP00000509369.1:p.Ter375Leu
ENST00000691410.1:c.*1024G>T	ENSP00000508479.1:n.*1024G>T
ENST00000693287.1:c.763G>T	ENSP00000510264.1:p.Asp255Tyr
ENST00000693681.1:c.760G>T	ENSP00000510789.1:p.Asp254Tyr
ENST00000233838.9:c.1447G>T MANE Select	ENSP00000233838.3:p.Asp483Tyr
ENST00000233838.8:c.1447G>T	ENSP00000233838.3:p.Asp483Tyr
ENST00000430215.7:c.1276G>T	ENSP00000408045.3:p.Asp426Tyr
ENST00000465637.5:n.179-3970G>T
NM_000821.5:c.1447G>T	NP_000812.2:p.Asp483Tyr
NM_000821.6:c.1447G>T	NP_000812.2:p.Asp483Tyr
NM_001142269.2:c.1276G>T	NP_001135741.1:p.Asp426Tyr
NM_001142269.3:c.1276G>T	NP_001135741.1:p.Asp426Tyr
XM_005264259.3:c.1447G>T	XP_005264316.1:p.Asp483Tyr
XM_011532764.1:c.625G>T	XP_011531066.1:p.Asp209Tyr
XM_011532765.1:c.625G>T	XP_011531067.1:p.Asp209Tyr
XR_939677.1:n.1360G>T
XM_005264259.5:c.1447G>T	XP_005264316.1:p.Asp483Tyr
XM_011532764.3:c.625G>T	XP_011531066.1:p.Asp209Tyr
XM_011532765.3:c.625G>T	XP_011531067.1:p.Asp209Tyr
XM_017003803.2:c.1276G>T	XP_016859292.1:p.Asp426Tyr
XR_001738703.2:n.1360G>T
NM_000821.7:c.1447G>T MANE Select	NP_000812.2:p.Asp483Tyr
NM_001142269.4:c.1276G>T	NP_001135741.1:p.Asp426Tyr