Canonical Allele Identifier: CA894035966

Gene: GGCX

Linked Data

• dbSNP Id: rs1292564116
• gnomAD v3: 2-85547893-A-G
• gnomAD v4: 2-85547893-A-G
• MyVariant Identifiers: chr2:g.85775016A>G (hg19) ; chr2:g.85547893A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85547893A>G , CM000664.2:g.85547893A>G	GRCh38
NC_000002.11:g.85775016A>G , CM000664.1:g.85775016A>G	GRCh37
NC_000002.10:g.85628527A>G	NCBI36
NG_011811.2:g.18642T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000233838.9:c.*2041T>C MANE Select	ENSP00000233838.3:n.*2041T>C
ENST00000233838.8:c.*2041T>C	ENSP00000233838.3:n.*2041T>C
ENST00000465637.5:n.290T>C
NM_000821.5:c.*2041T>C	NP_000812.2:n.*2041T>C
NM_000821.6:c.*2041T>C	NP_000812.2:n.*2041T>C
NM_001142269.2:c.*2041T>C	NP_001135741.1:n.*2041T>C
NM_001142269.3:c.*2041T>C	NP_001135741.1:n.*2041T>C
NM_000821.7:c.*2041T>C MANE Select	NP_000812.2:n.*2041T>C
NM_001142269.4:c.*2041T>C	NP_001135741.1:n.*2041T>C