Canonical Allele Identifier: CA10614472
Gene: GGCX HGNC NCBI

Linked Data

ClinVar Variation Id: 337204
ClinVar RCV Id: RCV000299884
dbSNP Id: rs35416445
gnomAD v2: 2-85773659-A-G
gnomAD v3: 2-85546536-A-G
gnomAD v4: 2-85546536-A-G
MyVariant Identifiers: chr2:g.85773659A>G (hg19) chr2:g.85546536A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546536A>G , CM000664.2:g.85546536A>G GRCh38
NC_000002.11:g.85773659A>G , CM000664.1:g.85773659A>G GRCh37
NC_000002.10:g.85627170A>G NCBI36
NG_011811.2:g.19999T>C
NG_029183.1:g.12559A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233838.9:c.*3398T>C MANE Select ENSP00000233838.3:n.*3398T>C
ENST00000233838.8:c.*3398T>C ENSP00000233838.3:n.*3398T>C
NM_000821.5:c.*3398T>C NP_000812.2:n.*3398T>C
NM_000821.6:c.*3398T>C NP_000812.2:n.*3398T>C
NM_001142269.2:c.*3398T>C NP_001135741.1:n.*3398T>C
NM_001142269.3:c.*3398T>C NP_001135741.1:n.*3398T>C
NM_000821.7:c.*3398T>C MANE Select NP_000812.2:n.*3398T>C
NM_001142269.4:c.*3398T>C NP_001135741.1:n.*3398T>C
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