Canonical Allele Identifier: CA10645404

Gene: MGAT2

Linked Data

• ClinVar Variation Id: 313261
• ClinVar RCV Id: RCV000273304 ; RCV001112128
• dbSNP Id: rs1011373
• gnomAD v2: 14-50089696-C-G
• gnomAD v3: 14-49622978-C-G
• gnomAD v4: 14-49622978-C-G
• MyVariant Identifiers: chr14:g.50089696C>G (hg19) ; chr14:g.50089696_50089698delinsGAT (hg19) ; chr14:g.49622978C>G (hg38) ; chr14:g.49622978_49622980delinsGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49622978C>G , CM000676.2:g.49622978C>G	GRCh38
NC_000014.8:g.50089696C>G , CM000676.1:g.50089696C>G	GRCh37
NC_000014.7:g.49159446C>G	NCBI36
NG_008920.1:g.7208C>G
NG_033054.1:g.2654G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305386.4:c.*366C>G MANE Select	ENSP00000307423.2:n.*366C>G
ENST00000305386.3:c.*366C>G	ENSP00000307423.2:n.*366C>G
NM_002408.3:c.*366C>G	NP_002399.1:n.*366C>G
NM_002408.4:c.*366C>G MANE Select	NP_002399.1:n.*366C>G