Canonical Allele Identifier: CA248876

Gene: MGAT2

Linked Data

• ClinVar Variation Id: 218607
• ClinVar RCV Id: RCV000202676 ; RCV000864413 ; RCV002515496 ; RCV001722114 ; RCV003937766
• dbSNP Id: rs140584714
• ExAC: 14:50088085 G / T
• gnomAD v2: 14-50088085-G-T
• gnomAD v3: 14-49621367-G-T
• gnomAD v4: 14-49621367-G-T
• MyVariant Identifiers: chr14:g.50088085G>T (hg19) ; chr14:g.49621367G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49621367G>T , CM000676.2:g.49621367G>T	GRCh38
NC_000014.8:g.50088085G>T , CM000676.1:g.50088085G>T	GRCh37
NC_000014.7:g.49157835G>T	NCBI36
NG_008920.1:g.5597G>T
NG_033054.1:g.4265C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305386.4:c.99G>T MANE Select	ENSP00000307423.2:p.Lys33Asn
ENST00000305386.3:c.99G>T	ENSP00000307423.2:p.Lys33Asn
NM_002408.3:c.99G>T	NP_002399.1:p.Lys33Asn
NM_002408.4:c.99G>T MANE Select	NP_002399.1:p.Lys33Asn