Canonical Allele Identifier: CA1741785

Gene: GGCX

Linked Data

• ClinVar Variation Id: 789561
• ClinVar RCV Id: RCV000972218 ; RCV002548364 ; RCV003936144
• dbSNP Id: rs78504541
• ExAC: 2:85778964 G / A
• gnomAD v2: 2-85778964-G-A
• gnomAD v3: 2-85551841-G-A
• gnomAD v4: 2-85551841-G-A
• MyVariant Identifiers: chr2:g.85778964G>A (hg19) ; chr2:g.85551841G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551841G>A , CM000664.2:g.85551841G>A	GRCh38
NC_000002.11:g.85778964G>A , CM000664.1:g.85778964G>A	GRCh37
NC_000002.10:g.85632475G>A	NCBI36
NG_011811.2:g.14694C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6058C>T
ENST00000482662.2:n.4465C>T
ENST00000685865.1:n.2417C>T
ENST00000687250.1:n.2117C>T
ENST00000687995.1:n.1932C>T
ENST00000688205.1:c.*1173C>T	ENSP00000509673.1:n.*1173C>T
ENST00000688788.1:n.1819C>T
ENST00000689276.1:c.1511C>T	ENSP00000510012.1:p.Thr504Ile
ENST00000689576.1:c.*199C>T	ENSP00000508712.1:n.*199C>T
ENST00000690108.1:c.*1236C>T	ENSP00000510617.1:n.*1236C>T
ENST00000690468.1:c.*132C>T	ENSP00000509078.1:n.*132C>T
ENST00000690595.1:c.905C>T	ENSP00000508979.1:p.Thr302Ile
ENST00000691348.1:c.*132C>T	ENSP00000509369.1:n.*132C>T
ENST00000691410.1:c.*1157C>T	ENSP00000508479.1:n.*1157C>T
ENST00000693287.1:c.896C>T	ENSP00000510264.1:p.Thr299Ile
ENST00000693681.1:c.893C>T	ENSP00000510789.1:p.Thr298Ile
ENST00000233838.9:c.1580C>T MANE Select	ENSP00000233838.3:p.Thr527Ile
ENST00000233838.8:c.1580C>T	ENSP00000233838.3:p.Thr527Ile
ENST00000430215.7:c.1409C>T	ENSP00000408045.3:p.Thr470Ile
ENST00000465637.5:n.179-3837C>T
NM_000821.5:c.1580C>T	NP_000812.2:p.Thr527Ile
NM_000821.6:c.1580C>T	NP_000812.2:p.Thr527Ile
NM_001142269.2:c.1409C>T	NP_001135741.1:p.Thr470Ile
NM_001142269.3:c.1409C>T	NP_001135741.1:p.Thr470Ile
XM_005264259.3:c.1580C>T	XP_005264316.1:p.Thr527Ile
XM_011532764.1:c.758C>T	XP_011531066.1:p.Thr253Ile
XM_011532765.1:c.758C>T	XP_011531067.1:p.Thr253Ile
XR_939677.1:n.1493C>T
XM_005264259.5:c.1580C>T	XP_005264316.1:p.Thr527Ile
XM_011532764.3:c.758C>T	XP_011531066.1:p.Thr253Ile
XM_011532765.3:c.758C>T	XP_011531067.1:p.Thr253Ile
XM_017003803.2:c.1409C>T	XP_016859292.1:p.Thr470Ile
XR_001738703.2:n.1493C>T
NM_000821.7:c.1580C>T MANE Select	NP_000812.2:p.Thr527Ile
NM_001142269.4:c.1409C>T	NP_001135741.1:p.Thr470Ile