Canonical Allele Identifier: CA389618889
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621678C>T , CM000676.2:g.49621678C>T GRCh38
NC_000014.8:g.50088396C>T , CM000676.1:g.50088396C>T GRCh37
NC_000014.7:g.49158146C>T NCBI36
NG_008920.1:g.5908C>T
NG_033054.1:g.3954G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.410C>T MANE Select ENSP00000307423.2:p.Ser137Leu
ENST00000305386.3:c.410C>T ENSP00000307423.2:p.Ser137Leu
NM_002408.3:c.410C>T NP_002399.1:p.Ser137Leu
NM_002408.4:c.410C>T MANE Select NP_002399.1:p.Ser137Leu