Canonical Allele Identifier: CA51723685
Gene: MAT2A HGNC NCBI

Linked Data

dbSNP Id: rs1042348234
gnomAD v2: 2-85767643-A-G
gnomAD v3: 2-85540520-A-G
gnomAD v4: 2-85540520-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85540520A>G , CM000664.2:g.85540520A>G GRCh38
NC_000002.11:g.85767643A>G , CM000664.1:g.85767643A>G GRCh37
NC_000002.10:g.85621154A>G NCBI36
NG_029183.1:g.6543A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000306434.8:c.92-563A>G MANE Select ENSP00000303147.3:n.92-563A>G
ENST00000306434.7:c.92-563A>G ENSP00000303147.3:n.92-563A>G
ENST00000409017.1:c.-99+520A>G ENSP00000386353.1:n.-99+520A>G
ENST00000465151.5:n.212-563A>G
ENST00000469221.5:n.212-563A>G
ENST00000481412.5:n.70-563A>G
NM_005911.5:c.92-563A>G NP_005902.1:n.92-563A>G
NM_005911.6:c.92-563A>G MANE Select NP_005902.1:n.92-563A>G