Canonical Allele Identifier: CA7172631

Gene: MGAT2

Linked Data

• ClinVar Variation Id: 389347
• ClinVar RCV Id: RCV000442827 ; RCV001111657
• dbSNP Id: rs111486860
• ExAC: 14:50089009 T / C
• gnomAD v2: 14-50089009-T-C
• gnomAD v3: 14-49622291-T-C
• gnomAD v4: 14-49622291-T-C
• MyVariant Identifiers: chr14:g.50089009T>C (hg19) ; chr14:g.49622291T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49622291T>C , CM000676.2:g.49622291T>C	GRCh38
NC_000014.8:g.50089009T>C , CM000676.1:g.50089009T>C	GRCh37
NC_000014.7:g.49158759T>C	NCBI36
NG_008920.1:g.6521T>C
NG_033054.1:g.3341A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305386.4:c.1023T>C MANE Select	ENSP00000307423.2:p.Tyr341=
ENST00000305386.3:c.1023T>C	ENSP00000307423.2:p.Tyr341=
NM_002408.3:c.1023T>C	NP_002399.1:p.Tyr341=
NM_002408.4:c.1023T>C MANE Select	NP_002399.1:p.Tyr341=