Canonical Allele Identifier: CA706480752

Gene: MGAT2

Linked Data

• dbSNP Id: rs1289121135
• gnomAD v3: 14-49621891-TGG-T
• gnomAD v4: 14-49621891-TGG-T
• MyVariant Identifiers: chr14:g.50088610_50088611del (hg19) ; chr14:g.49621892_49621893del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49621894_49621895del , CM000676.2:g.49621894_49621895del	GRCh38
NC_000014.8:g.50088612_50088613del , CM000676.1:g.50088612_50088613del	GRCh37
NC_000014.7:g.49158362_49158363del	NCBI36
NG_008920.1:g.6124_6125del
NG_033054.1:g.3739_3740del

Transcript Alleles

HGVS	Amino-acid change
ENST00000305386.4:c.626_627del MANE Select	ENSP00000307423.2:p.Gly209ValfsTer5
ENST00000305386.3:c.626_627del	ENSP00000307423.2:p.Gly209ValfsTer5
NM_002408.3:c.626_627del	NP_002399.1:p.Gly209ValfsTer5
NM_002408.4:c.626_627del MANE Select	NP_002399.1:p.Gly209ValfsTer5