Canonical Allele Identifier: CA389618965
Gene: MGAT2 HGNC NCBI

Linked Data

gnomAD v4: 14-49621699-T-A
MyVariant Identifiers: chr14:g.50088417T>A (hg19) chr14:g.49621699T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621699T>A , CM000676.2:g.49621699T>A GRCh38
NC_000014.8:g.50088417T>A , CM000676.1:g.50088417T>A GRCh37
NC_000014.7:g.49158167T>A NCBI36
NG_008920.1:g.5929T>A
NG_033054.1:g.3933A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.431T>A MANE Select ENSP00000307423.2:p.Ile144Asn
ENST00000305386.3:c.431T>A ENSP00000307423.2:p.Ile144Asn
NM_002408.3:c.431T>A NP_002399.1:p.Ile144Asn
NM_002408.4:c.431T>A MANE Select NP_002399.1:p.Ile144Asn
Search 100 bp 5'
Search 100 bp 3'