Canonical Allele Identifier: CA10616284

Gene: GGCX

Linked Data

• ClinVar Variation Id: 337181
• ClinVar RCV Id: RCV000309000
• dbSNP Id: rs530247310
• gnomAD v3: 2-85545620-A-G
• gnomAD v4: 2-85545620-A-G
• MyVariant Identifiers: chr2:g.85772743A>G (hg19) ; chr2:g.85545620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85545620A>G , CM000664.2:g.85545620A>G	GRCh38
NC_000002.11:g.85772743A>G , CM000664.1:g.85772743A>G	GRCh37
NC_000002.10:g.85626254A>G	NCBI36
NG_011811.2:g.20915T>C
NG_029183.1:g.11643A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233838.9:c.*4314T>C MANE Select	ENSP00000233838.3:n.*4314T>C
ENST00000233838.8:c.*4314T>C	ENSP00000233838.3:n.*4314T>C
NM_000821.5:c.*4314T>C	NP_000812.2:n.*4314T>C
NM_000821.6:c.*4314T>C	NP_000812.2:n.*4314T>C
NM_001142269.2:c.*4314T>C	NP_001135741.1:n.*4314T>C
NM_001142269.3:c.*4314T>C	NP_001135741.1:n.*4314T>C
NM_000821.7:c.*4314T>C MANE Select	NP_000812.2:n.*4314T>C
NM_001142269.4:c.*4314T>C	NP_001135741.1:n.*4314T>C