Canonical Allele Identifier: CA706480375

Gene: MGAT2

Linked Data

• dbSNP Id: rs1471311974
• MyVariant Identifiers: chr14:g.50088336_50088337insGCTGGT (hg19) ; chr14:g.49621618_49621619insGCTGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49621626_49621631dup , CM000676.2:g.49621626_49621631dup	GRCh38
NC_000014.8:g.50088344_50088349dup , CM000676.1:g.50088344_50088349dup	GRCh37
NC_000014.7:g.49158094_49158099dup	NCBI36
NG_008920.1:g.5856_5861dup
NG_033054.1:g.4008_4013dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305386.4:c.358_363dup MANE Select	ENSP00000307423.2:p.Val121_Val122insLeuVal
ENST00000305386.3:c.358_363dup	ENSP00000307423.2:p.Val121_Val122insLeuVal
NM_002408.3:c.358_363dup	NP_002399.1:p.Val121_Val122insLeuVal
NM_002408.4:c.358_363dup MANE Select	NP_002399.1:p.Val121_Val122insLeuVal