Canonical Allele Identifier: CA2820008963

Gene: MBTPS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21845167A>T , CM000685.2:g.21845167A>T	GRCh38
NC_000023.10:g.21863285A>T , CM000685.1:g.21863285A>T	GRCh37
NC_000023.9:g.21773206A>T	NCBI36
NG_012797.1:g.10630A>T
NG_012797.2:g.10630A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.225-4A>T MANE Select	ENSP00000368798.5:n.225-4A>T
ENST00000365779.2:c.225-4A>T	ENSP00000368796.1:n.225-4A>T
ENST00000379484.9:c.225-4A>T	ENSP00000368798.5:n.225-4A>T
ENST00000465888.1:n.324-4A>T
NM_015884.3:c.225-4A>T	NP_056968.1:n.225-4A>T
NM_015884.4:c.225-4A>T MANE Select	NP_056968.1:n.225-4A>T