Canonical Allele Identifier: CA347485082

Gene: GGCX

Linked Data

• ClinVar Variation Id: 3099591
• ClinVar RCV Id: RCV004390416
• dbSNP Id: rs1440341591
• gnomAD v2: 2-85779102-A-T
• gnomAD v3: 2-85551979-A-T
• gnomAD v4: 2-85551979-A-T
• MyVariant Identifiers: chr2:g.85779102A>T (hg19) ; chr2:g.85551979A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551979A>T , CM000664.2:g.85551979A>T	GRCh38
NC_000002.11:g.85779102A>T , CM000664.1:g.85779102A>T	GRCh37
NC_000002.10:g.85632613A>T	NCBI36
NG_011811.2:g.14556T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5920T>A
ENST00000482662.2:n.4327T>A
ENST00000685865.1:n.2279T>A
ENST00000687250.1:n.1979T>A
ENST00000687995.1:n.1794T>A
ENST00000688205.1:c.*1035T>A	ENSP00000509673.1:n.*1035T>A
ENST00000688788.1:n.1681T>A
ENST00000689276.1:c.1373T>A	ENSP00000510012.1:p.Ile458Asn
ENST00000689576.1:c.*61T>A	ENSP00000508712.1:n.*61T>A
ENST00000690108.1:c.*1098T>A	ENSP00000510617.1:n.*1098T>A
ENST00000690468.1:c.1011T>A	ENSP00000509078.1:p.Asp337Glu
ENST00000690595.1:c.767T>A	ENSP00000508979.1:p.Ile256Asn
ENST00000691348.1:c.1119T>A	ENSP00000509369.1:p.Asp373Glu
ENST00000691410.1:c.*1019T>A	ENSP00000508479.1:n.*1019T>A
ENST00000693287.1:c.758T>A	ENSP00000510264.1:p.Ile253Asn
ENST00000693681.1:c.755T>A	ENSP00000510789.1:p.Ile252Asn
ENST00000233838.9:c.1442T>A MANE Select	ENSP00000233838.3:p.Ile481Asn
ENST00000233838.8:c.1442T>A	ENSP00000233838.3:p.Ile481Asn
ENST00000430215.7:c.1271T>A	ENSP00000408045.3:p.Ile424Asn
ENST00000465637.5:n.179-3975T>A
NM_000821.5:c.1442T>A	NP_000812.2:p.Ile481Asn
NM_000821.6:c.1442T>A	NP_000812.2:p.Ile481Asn
NM_001142269.2:c.1271T>A	NP_001135741.1:p.Ile424Asn
NM_001142269.3:c.1271T>A	NP_001135741.1:p.Ile424Asn
XM_005264259.3:c.1442T>A	XP_005264316.1:p.Ile481Asn
XM_011532764.1:c.620T>A	XP_011531066.1:p.Ile207Asn
XM_011532765.1:c.620T>A	XP_011531067.1:p.Ile207Asn
XR_939677.1:n.1355T>A
XM_005264259.5:c.1442T>A	XP_005264316.1:p.Ile481Asn
XM_011532764.3:c.620T>A	XP_011531066.1:p.Ile207Asn
XM_011532765.3:c.620T>A	XP_011531067.1:p.Ile207Asn
XM_017003803.2:c.1271T>A	XP_016859292.1:p.Ile424Asn
XR_001738703.2:n.1355T>A
NM_000821.7:c.1442T>A MANE Select	NP_000812.2:p.Ile481Asn
NM_001142269.4:c.1271T>A	NP_001135741.1:p.Ile424Asn