Canonical Allele Identifier: CA347484971

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779049T>A (hg19) ; chr2:g.85551926T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551926T>A , CM000664.2:g.85551926T>A	GRCh38
NC_000002.11:g.85779049T>A , CM000664.1:g.85779049T>A	GRCh37
NC_000002.10:g.85632560T>A	NCBI36
NG_011811.2:g.14609A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5973A>T
ENST00000482662.2:n.4380A>T
ENST00000685865.1:n.2332A>T
ENST00000687250.1:n.2032A>T
ENST00000687995.1:n.1847A>T
ENST00000688205.1:c.*1088A>T	ENSP00000509673.1:n.*1088A>T
ENST00000688788.1:n.1734A>T
ENST00000689276.1:c.1426A>T	ENSP00000510012.1:p.Thr476Ser
ENST00000689576.1:c.*114A>T	ENSP00000508712.1:n.*114A>T
ENST00000690108.1:c.*1151A>T	ENSP00000510617.1:n.*1151A>T
ENST00000690468.1:c.*47A>T	ENSP00000509078.1:n.*47A>T
ENST00000690595.1:c.820A>T	ENSP00000508979.1:p.Thr274Ser
ENST00000691348.1:c.*47A>T	ENSP00000509369.1:n.*47A>T
ENST00000691410.1:c.*1072A>T	ENSP00000508479.1:n.*1072A>T
ENST00000693287.1:c.811A>T	ENSP00000510264.1:p.Thr271Ser
ENST00000693681.1:c.808A>T	ENSP00000510789.1:p.Thr270Ser
ENST00000233838.9:c.1495A>T MANE Select	ENSP00000233838.3:p.Thr499Ser
ENST00000233838.8:c.1495A>T	ENSP00000233838.3:p.Thr499Ser
ENST00000430215.7:c.1324A>T	ENSP00000408045.3:p.Thr442Ser
ENST00000465637.5:n.179-3922A>T
NM_000821.5:c.1495A>T	NP_000812.2:p.Thr499Ser
NM_000821.6:c.1495A>T	NP_000812.2:p.Thr499Ser
NM_001142269.2:c.1324A>T	NP_001135741.1:p.Thr442Ser
NM_001142269.3:c.1324A>T	NP_001135741.1:p.Thr442Ser
XM_005264259.3:c.1495A>T	XP_005264316.1:p.Thr499Ser
XM_011532764.1:c.673A>T	XP_011531066.1:p.Thr225Ser
XM_011532765.1:c.673A>T	XP_011531067.1:p.Thr225Ser
XR_939677.1:n.1408A>T
XM_005264259.5:c.1495A>T	XP_005264316.1:p.Thr499Ser
XM_011532764.3:c.673A>T	XP_011531066.1:p.Thr225Ser
XM_011532765.3:c.673A>T	XP_011531067.1:p.Thr225Ser
XM_017003803.2:c.1324A>T	XP_016859292.1:p.Thr442Ser
XR_001738703.2:n.1408A>T
NM_000821.7:c.1495A>T MANE Select	NP_000812.2:p.Thr499Ser
NM_001142269.4:c.1324A>T	NP_001135741.1:p.Thr442Ser