Canonical Allele Identifier: CA347487396

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780387G>T (hg19) ; chr2:g.85553264G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553264G>T , CM000664.2:g.85553264G>T	GRCh38
NC_000002.11:g.85780387G>T , CM000664.1:g.85780387G>T	GRCh37
NC_000002.10:g.85633898G>T	NCBI36
NG_011811.2:g.13271C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5167C>A
ENST00000482662.2:n.3574C>A
ENST00000685865.1:n.1526C>A
ENST00000687250.1:n.1226C>A
ENST00000687995.1:n.1475C>A
ENST00000688205.1:c.*716C>A	ENSP00000509673.1:n.*716C>A
ENST00000688788.1:n.1362C>A
ENST00000689276.1:c.1054C>A	ENSP00000510012.1:p.Leu352Ile
ENST00000689576.1:c.1123C>A	ENSP00000508712.1:p.Leu375Ile
ENST00000690108.1:c.*779C>A	ENSP00000510617.1:n.*779C>A
ENST00000690468.1:c.844C>A	ENSP00000509078.1:p.Leu282Ile
ENST00000690595.1:c.448C>A	ENSP00000508979.1:p.Leu150Ile
ENST00000691348.1:c.952C>A	ENSP00000509369.1:p.Leu318Ile
ENST00000691410.1:c.*700C>A	ENSP00000508479.1:n.*700C>A
ENST00000693287.1:c.439C>A	ENSP00000510264.1:p.Leu147Ile
ENST00000693681.1:c.436C>A	ENSP00000510789.1:p.Leu146Ile
ENST00000233838.9:c.1123C>A MANE Select	ENSP00000233838.3:p.Leu375Ile
ENST00000233838.8:c.1123C>A	ENSP00000233838.3:p.Leu375Ile
ENST00000430215.7:c.952C>A	ENSP00000408045.3:p.Leu318Ile
ENST00000465637.5:n.179-5260C>A
ENST00000473665.1:n.616C>A
ENST00000482662.1:n.540C>A
NM_000821.5:c.1123C>A	NP_000812.2:p.Leu375Ile
NM_000821.6:c.1123C>A	NP_000812.2:p.Leu375Ile
NM_001142269.2:c.952C>A	NP_001135741.1:p.Leu318Ile
NM_001142269.3:c.952C>A	NP_001135741.1:p.Leu318Ile
XM_005264259.3:c.1123C>A	XP_005264316.1:p.Leu375Ile
XM_011532764.1:c.301C>A	XP_011531066.1:p.Leu101Ile
XM_011532765.1:c.301C>A	XP_011531067.1:p.Leu101Ile
XR_939677.1:n.1188C>A
XM_005264259.5:c.1123C>A	XP_005264316.1:p.Leu375Ile
XM_011532764.3:c.301C>A	XP_011531066.1:p.Leu101Ile
XM_011532765.3:c.301C>A	XP_011531067.1:p.Leu101Ile
XM_017003803.2:c.952C>A	XP_016859292.1:p.Leu318Ile
XR_001738703.2:n.1188C>A
NM_000821.7:c.1123C>A MANE Select	NP_000812.2:p.Leu375Ile
NM_001142269.4:c.952C>A	NP_001135741.1:p.Leu318Ile