Canonical Allele Identifier: CA534171940
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1199742227
gnomAD v2: 2-85773642-C-T
gnomAD v4: 2-85546519-C-T
MyVariant Identifiers: chr2:g.85773642C>T (hg19) chr2:g.85546519C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546519C>T , CM000664.2:g.85546519C>T GRCh38
NC_000002.11:g.85773642C>T , CM000664.1:g.85773642C>T GRCh37
NC_000002.10:g.85627153C>T NCBI36
NG_011811.2:g.20016G>A
NG_029183.1:g.12542C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000233838.9:c.*3415G>A MANE Select ENSP00000233838.3:n.*3415G>A
ENST00000233838.8:c.*3415G>A ENSP00000233838.3:n.*3415G>A
NM_000821.5:c.*3415G>A NP_000812.2:n.*3415G>A
NM_000821.6:c.*3415G>A NP_000812.2:n.*3415G>A
NM_001142269.2:c.*3415G>A NP_001135741.1:n.*3415G>A
NM_001142269.3:c.*3415G>A NP_001135741.1:n.*3415G>A
NM_000821.7:c.*3415G>A MANE Select NP_000812.2:n.*3415G>A
NM_001142269.4:c.*3415G>A NP_001135741.1:n.*3415G>A
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