Canonical Allele Identifier: CA347488718

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780616C>T (hg19) ; chr2:g.85553493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553493C>T , CM000664.2:g.85553493C>T	GRCh38
NC_000002.11:g.85780616C>T , CM000664.1:g.85780616C>T	GRCh37
NC_000002.10:g.85634127C>T	NCBI36
NG_011811.2:g.13042G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.4938G>A
ENST00000482662.2:n.3345G>A
ENST00000685865.1:n.1297G>A
ENST00000687250.1:n.997G>A
ENST00000687995.1:n.1246G>A
ENST00000688205.1:c.*487G>A	ENSP00000509673.1:n.*487G>A
ENST00000688788.1:n.1133G>A
ENST00000689276.1:c.825G>A	ENSP00000510012.1:p.Met275Ile
ENST00000689576.1:c.894G>A	ENSP00000508712.1:p.Met298Ile
ENST00000690108.1:c.*550G>A	ENSP00000510617.1:n.*550G>A
ENST00000690468.1:c.615G>A	ENSP00000509078.1:p.Met205Ile
ENST00000690595.1:c.219G>A	ENSP00000508979.1:p.Met73Ile
ENST00000691348.1:c.723G>A	ENSP00000509369.1:p.Met241Ile
ENST00000691410.1:c.*471G>A	ENSP00000508479.1:n.*471G>A
ENST00000693287.1:c.210G>A	ENSP00000510264.1:p.Met70Ile
ENST00000693681.1:c.207G>A	ENSP00000510789.1:p.Met69Ile
ENST00000233838.9:c.894G>A MANE Select	ENSP00000233838.3:p.Met298Ile
ENST00000233838.8:c.894G>A	ENSP00000233838.3:p.Met298Ile
ENST00000430215.7:c.723G>A	ENSP00000408045.3:p.Met241Ile
ENST00000465637.5:n.179-5489G>A
ENST00000473665.1:n.387G>A
ENST00000482662.1:n.311G>A
NM_000821.5:c.894G>A	NP_000812.2:p.Met298Ile
NM_000821.6:c.894G>A	NP_000812.2:p.Met298Ile
NM_001142269.2:c.723G>A	NP_001135741.1:p.Met241Ile
NM_001142269.3:c.723G>A	NP_001135741.1:p.Met241Ile
XM_005264259.3:c.894G>A	XP_005264316.1:p.Met298Ile
XM_011532764.1:c.72G>A	XP_011531066.1:p.Met24Ile
XM_011532765.1:c.72G>A	XP_011531067.1:p.Met24Ile
XR_939677.1:n.959G>A
XM_005264259.5:c.894G>A	XP_005264316.1:p.Met298Ile
XM_011532764.3:c.72G>A	XP_011531066.1:p.Met24Ile
XM_011532765.3:c.72G>A	XP_011531067.1:p.Met24Ile
XM_017003803.2:c.723G>A	XP_016859292.1:p.Met241Ile
XR_001738703.2:n.959G>A
NM_000821.7:c.894G>A MANE Select	NP_000812.2:p.Met298Ile
NM_001142269.4:c.723G>A	NP_001135741.1:p.Met241Ile