Canonical Allele Identifier: CA121440
Community Standard Title: NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile)
Gene: MBTPS2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845207G>A , CM000685.2:g.21845207G>A GRCh38
NC_000023.10:g.21863325G>A , CM000685.1:g.21863325G>A GRCh37
NC_000023.9:g.21773246G>A NCBI36
NG_012797.1:g.10670G>A
NG_012797.2:g.10670G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015884.4:c.261G>A MANE Select NP_056968.1:p.Met87Ile
ENST00000379484.10:c.261G>A MANE Select ENSP00000368798.5:p.Met87Ile
NM_015884.3:c.261G>A NP_056968.1:p.Met87Ile
ENST00000365779.2:c.261G>A ENSP00000368796.1:p.Met87Ile
ENST00000379484.9:c.261G>A ENSP00000368798.5:p.Met87Ile
ENST00000465888.1:n.360G>A
Search 100 bp 5'
Search 100 bp 3'