Canonical Allele Identifier: CA7172585

Gene: MGAT2

Linked Data

• ClinVar Variation Id: 736435
• ClinVar RCV Id: RCV003507329 ; RCV003958333
• dbSNP Id: rs781766964
• ExAC: 14:50088622 T / C
• gnomAD v2: 14-50088622-T-C
• gnomAD v3: 14-49621904-T-C
• gnomAD v4: 14-49621904-T-C
• MyVariant Identifiers: chr14:g.50088622T>C (hg19) ; chr14:g.49621904T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49621904T>C , CM000676.2:g.49621904T>C	GRCh38
NC_000014.8:g.50088622T>C , CM000676.1:g.50088622T>C	GRCh37
NC_000014.7:g.49158372T>C	NCBI36
NG_008920.1:g.6134T>C
NG_033054.1:g.3728A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305386.4:c.636T>C MANE Select	ENSP00000307423.2:p.Asn212=
ENST00000305386.3:c.636T>C	ENSP00000307423.2:p.Asn212=
NM_002408.3:c.636T>C	NP_002399.1:p.Asn212=
NM_002408.4:c.636T>C MANE Select	NP_002399.1:p.Asn212=