Canonical Allele Identifier: CA534172001

Gene: GGCX

Linked Data

• dbSNP Id: rs1245176099
• gnomAD v2: 2-85774007-T-C
• gnomAD v3: 2-85546884-T-C
• gnomAD v4: 2-85546884-T-C
• MyVariant Identifiers: chr2:g.85774007T>C (hg19) ; chr2:g.85546884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85546884T>C , CM000664.2:g.85546884T>C	GRCh38
NC_000002.11:g.85774007T>C , CM000664.1:g.85774007T>C	GRCh37
NC_000002.10:g.85627518T>C	NCBI36
NG_011811.2:g.19651A>G
NG_029183.1:g.12907T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000233838.9:c.*3050A>G MANE Select	ENSP00000233838.3:n.*3050A>G
ENST00000233838.8:c.*3050A>G	ENSP00000233838.3:n.*3050A>G
NM_000821.5:c.*3050A>G	NP_000812.2:n.*3050A>G
NM_000821.6:c.*3050A>G	NP_000812.2:n.*3050A>G
NM_001142269.2:c.*3050A>G	NP_001135741.1:n.*3050A>G
NM_001142269.3:c.*3050A>G	NP_001135741.1:n.*3050A>G
NM_000821.7:c.*3050A>G MANE Select	NP_000812.2:n.*3050A>G
NM_001142269.4:c.*3050A>G	NP_001135741.1:n.*3050A>G