Canonical Allele Identifier: CA347484943

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779036T>A (hg19) ; chr2:g.85551913T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551913T>A , CM000664.2:g.85551913T>A	GRCh38
NC_000002.11:g.85779036T>A , CM000664.1:g.85779036T>A	GRCh37
NC_000002.10:g.85632547T>A	NCBI36
NG_011811.2:g.14622A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5986A>T
ENST00000482662.2:n.4393A>T
ENST00000685865.1:n.2345A>T
ENST00000687250.1:n.2045A>T
ENST00000687995.1:n.1860A>T
ENST00000688205.1:c.*1101A>T	ENSP00000509673.1:n.*1101A>T
ENST00000688788.1:n.1747A>T
ENST00000689276.1:c.1439A>T	ENSP00000510012.1:p.Gln480Leu
ENST00000689576.1:c.*127A>T	ENSP00000508712.1:n.*127A>T
ENST00000690108.1:c.*1164A>T	ENSP00000510617.1:n.*1164A>T
ENST00000690468.1:c.*60A>T	ENSP00000509078.1:n.*60A>T
ENST00000690595.1:c.833A>T	ENSP00000508979.1:p.Gln278Leu
ENST00000691348.1:c.*60A>T	ENSP00000509369.1:n.*60A>T
ENST00000691410.1:c.*1085A>T	ENSP00000508479.1:n.*1085A>T
ENST00000693287.1:c.824A>T	ENSP00000510264.1:p.Gln275Leu
ENST00000693681.1:c.821A>T	ENSP00000510789.1:p.Gln274Leu
ENST00000233838.9:c.1508A>T MANE Select	ENSP00000233838.3:p.Gln503Leu
ENST00000233838.8:c.1508A>T	ENSP00000233838.3:p.Gln503Leu
ENST00000430215.7:c.1337A>T	ENSP00000408045.3:p.Gln446Leu
ENST00000465637.5:n.179-3909A>T
NM_000821.5:c.1508A>T	NP_000812.2:p.Gln503Leu
NM_000821.6:c.1508A>T	NP_000812.2:p.Gln503Leu
NM_001142269.2:c.1337A>T	NP_001135741.1:p.Gln446Leu
NM_001142269.3:c.1337A>T	NP_001135741.1:p.Gln446Leu
XM_005264259.3:c.1508A>T	XP_005264316.1:p.Gln503Leu
XM_011532764.1:c.686A>T	XP_011531066.1:p.Gln229Leu
XM_011532765.1:c.686A>T	XP_011531067.1:p.Gln229Leu
XR_939677.1:n.1421A>T
XM_005264259.5:c.1508A>T	XP_005264316.1:p.Gln503Leu
XM_011532764.3:c.686A>T	XP_011531066.1:p.Gln229Leu
XM_011532765.3:c.686A>T	XP_011531067.1:p.Gln229Leu
XM_017003803.2:c.1337A>T	XP_016859292.1:p.Gln446Leu
XR_001738703.2:n.1421A>T
NM_000821.7:c.1508A>T MANE Select	NP_000812.2:p.Gln503Leu
NM_001142269.4:c.1337A>T	NP_001135741.1:p.Gln446Leu