Canonical Allele Identifier: CA389619264

Gene: MGAT2

Linked Data

• dbSNP Id: rs1398892073
• gnomAD v2: 14-50088485-G-T
• gnomAD v4: 14-49621767-G-T
• MyVariant Identifiers: chr14:g.50088485G>T (hg19) ; chr14:g.49621767G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49621767G>T , CM000676.2:g.49621767G>T	GRCh38
NC_000014.8:g.50088485G>T , CM000676.1:g.50088485G>T	GRCh37
NC_000014.7:g.49158235G>T	NCBI36
NG_008920.1:g.5997G>T
NG_033054.1:g.3865C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305386.4:c.499G>T MANE Select	ENSP00000307423.2:p.Val167Leu
ENST00000305386.3:c.499G>T	ENSP00000307423.2:p.Val167Leu
NM_002408.3:c.499G>T	NP_002399.1:p.Val167Leu
NM_002408.4:c.499G>T MANE Select	NP_002399.1:p.Val167Leu