Canonical Allele Identifier: CA347484935

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779033G>A (hg19) ; chr2:g.85551910G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551910G>A , CM000664.2:g.85551910G>A	GRCh38
NC_000002.11:g.85779033G>A , CM000664.1:g.85779033G>A	GRCh37
NC_000002.10:g.85632544G>A	NCBI36
NG_011811.2:g.14625C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5989C>T
ENST00000482662.2:n.4396C>T
ENST00000685865.1:n.2348C>T
ENST00000687250.1:n.2048C>T
ENST00000687995.1:n.1863C>T
ENST00000688205.1:c.*1104C>T	ENSP00000509673.1:n.*1104C>T
ENST00000688788.1:n.1750C>T
ENST00000689276.1:c.1442C>T	ENSP00000510012.1:p.Pro481Leu
ENST00000689576.1:c.*130C>T	ENSP00000508712.1:n.*130C>T
ENST00000690108.1:c.*1167C>T	ENSP00000510617.1:n.*1167C>T
ENST00000690468.1:c.*63C>T	ENSP00000509078.1:n.*63C>T
ENST00000690595.1:c.836C>T	ENSP00000508979.1:p.Pro279Leu
ENST00000691348.1:c.*63C>T	ENSP00000509369.1:n.*63C>T
ENST00000691410.1:c.*1088C>T	ENSP00000508479.1:n.*1088C>T
ENST00000693287.1:c.827C>T	ENSP00000510264.1:p.Pro276Leu
ENST00000693681.1:c.824C>T	ENSP00000510789.1:p.Pro275Leu
ENST00000233838.9:c.1511C>T MANE Select	ENSP00000233838.3:p.Pro504Leu
ENST00000233838.8:c.1511C>T	ENSP00000233838.3:p.Pro504Leu
ENST00000430215.7:c.1340C>T	ENSP00000408045.3:p.Pro447Leu
ENST00000465637.5:n.179-3906C>T
NM_000821.5:c.1511C>T	NP_000812.2:p.Pro504Leu
NM_000821.6:c.1511C>T	NP_000812.2:p.Pro504Leu
NM_001142269.2:c.1340C>T	NP_001135741.1:p.Pro447Leu
NM_001142269.3:c.1340C>T	NP_001135741.1:p.Pro447Leu
XM_005264259.3:c.1511C>T	XP_005264316.1:p.Pro504Leu
XM_011532764.1:c.689C>T	XP_011531066.1:p.Pro230Leu
XM_011532765.1:c.689C>T	XP_011531067.1:p.Pro230Leu
XR_939677.1:n.1424C>T
XM_005264259.5:c.1511C>T	XP_005264316.1:p.Pro504Leu
XM_011532764.3:c.689C>T	XP_011531066.1:p.Pro230Leu
XM_011532765.3:c.689C>T	XP_011531067.1:p.Pro230Leu
XM_017003803.2:c.1340C>T	XP_016859292.1:p.Pro447Leu
XR_001738703.2:n.1424C>T
NM_000821.7:c.1511C>T MANE Select	NP_000812.2:p.Pro504Leu
NM_001142269.4:c.1340C>T	NP_001135741.1:p.Pro447Leu