Canonical Allele Identifier: CA534172033

Gene: GGCX

Linked Data

• dbSNP Id: rs1303552762
• gnomAD v2: 2-85774084-G-A
• gnomAD v3: 2-85546961-G-A
• gnomAD v4: 2-85546961-G-A
• MyVariant Identifiers: chr2:g.85774084G>A (hg19) ; chr2:g.85546961G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85546961G>A , CM000664.2:g.85546961G>A	GRCh38
NC_000002.11:g.85774084G>A , CM000664.1:g.85774084G>A	GRCh37
NC_000002.10:g.85627595G>A	NCBI36
NG_011811.2:g.19574C>T
NG_029183.1:g.12984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233838.9:c.*2973C>T MANE Select	ENSP00000233838.3:n.*2973C>T
ENST00000233838.8:c.*2973C>T	ENSP00000233838.3:n.*2973C>T
NM_000821.5:c.*2973C>T	NP_000812.2:n.*2973C>T
NM_000821.6:c.*2973C>T	NP_000812.2:n.*2973C>T
NM_001142269.2:c.*2973C>T	NP_001135741.1:n.*2973C>T
NM_001142269.3:c.*2973C>T	NP_001135741.1:n.*2973C>T
NM_000821.7:c.*2973C>T MANE Select	NP_000812.2:n.*2973C>T
NM_001142269.4:c.*2973C>T	NP_001135741.1:n.*2973C>T