Canonical Allele Identifier: CA51728704
Gene: GGCX HGNC NCBI

Linked Data

ClinVar Variation Id: 897822
ClinVar RCV Id: RCV001141321
dbSNP Id: rs866533240
gnomAD v2: 2-85772979-C-T
gnomAD v3: 2-85545856-C-T
gnomAD v4: 2-85545856-C-T
MyVariant Identifiers: chr2:g.85772979C>T (hg19) chr2:g.85545856C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85545856C>T , CM000664.2:g.85545856C>T GRCh38
NC_000002.11:g.85772979C>T , CM000664.1:g.85772979C>T GRCh37
NC_000002.10:g.85626490C>T NCBI36
NG_011811.2:g.20679G>A
NG_029183.1:g.11879C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000233838.9:c.*4078G>A MANE Select ENSP00000233838.3:n.*4078G>A
ENST00000233838.8:c.*4078G>A ENSP00000233838.3:n.*4078G>A
NM_000821.5:c.*4078G>A NP_000812.2:n.*4078G>A
NM_000821.6:c.*4078G>A NP_000812.2:n.*4078G>A
NM_001142269.2:c.*4078G>A NP_001135741.1:n.*4078G>A
NM_001142269.3:c.*4078G>A NP_001135741.1:n.*4078G>A
NM_000821.7:c.*4078G>A MANE Select NP_000812.2:n.*4078G>A
NM_001142269.4:c.*4078G>A NP_001135741.1:n.*4078G>A
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