Canonical Allele Identifier: CA10614013

Gene: GGCX MAT2A

Linked Data

• ClinVar Variation Id: 337174
• ClinVar RCV Id: RCV000375682
• dbSNP Id: rs886056356
• gnomAD v3: 2-85545190-G-A
• gnomAD v4: 2-85545190-G-A
• MyVariant Identifiers: chr2:g.85772313G>A (hg19) ; chr2:g.85545190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85545190G>A , CM000664.2:g.85545190G>A	GRCh38
NC_000002.11:g.85772313G>A , CM000664.1:g.85772313G>A	GRCh37
NC_000002.10:g.85625824G>A	NCBI36
NG_011811.2:g.21345C>T
NG_029183.1:g.11213G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233838.9:c.*4744C>T (GGCX) MANE Select	ENSP00000233838.3:n.*4744C>T
ENST00000306434.8:c.*1418G>A (MAT2A) MANE Select	ENSP00000303147.3:n.*1418G>A
ENST00000233838.8:c.*4744C>T (GGCX)	ENSP00000233838.3:n.*4744C>T
ENST00000306434.7:c.*1418G>A (MAT2A)	ENSP00000303147.3:n.*1418G>A
NM_000821.5:c.*4744C>T (GGCX)	NP_000812.2:n.*4744C>T
NM_000821.6:c.*4744C>T (GGCX)	NP_000812.2:n.*4744C>T
NM_001142269.2:c.*4744C>T (GGCX)	NP_001135741.1:n.*4744C>T
NM_001142269.3:c.*4744C>T (GGCX)	NP_001135741.1:n.*4744C>T
NM_005911.5:c.*1418G>A (MAT2A)	NP_005902.1:n.*1418G>A
NM_000821.7:c.*4744C>T (GGCX) MANE Select	NP_000812.2:n.*4744C>T
NM_005911.6:c.*1418G>A (MAT2A) MANE Select	NP_005902.1:n.*1418G>A
NM_001142269.4:c.*4744C>T (GGCX)	NP_001135741.1:n.*4744C>T