Canonical Allele Identifier: CA412561773
Gene: MBTPS2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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