Canonical Allele Identifier: CA51729290
Gene: GGCX HGNC NCBI

Linked Data

ClinVar Variation Id: 894845
ClinVar RCV Id: RCV001136607
dbSNP Id: rs748992023
gnomAD v2: 2-85773473-G-A
gnomAD v3: 2-85546350-G-A
gnomAD v4: 2-85546350-G-A
MyVariant Identifiers: chr2:g.85773473G>A (hg19) chr2:g.85546350G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546350G>A , CM000664.2:g.85546350G>A GRCh38
NC_000002.11:g.85773473G>A , CM000664.1:g.85773473G>A GRCh37
NC_000002.10:g.85626984G>A NCBI36
NG_011811.2:g.20185C>T
NG_029183.1:g.12373G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*3584C>T MANE Select ENSP00000233838.3:n.*3584C>T
ENST00000233838.8:c.*3584C>T ENSP00000233838.3:n.*3584C>T
NM_000821.5:c.*3584C>T NP_000812.2:n.*3584C>T
NM_000821.6:c.*3584C>T NP_000812.2:n.*3584C>T
NM_001142269.2:c.*3584C>T NP_001135741.1:n.*3584C>T
NM_001142269.3:c.*3584C>T NP_001135741.1:n.*3584C>T
NM_000821.7:c.*3584C>T MANE Select NP_000812.2:n.*3584C>T
NM_001142269.4:c.*3584C>T NP_001135741.1:n.*3584C>T
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