Canonical Allele Identifier: CA2840540

Gene: MAN2B2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6587044_6587046del , CM000666.2:g.6587044_6587046del	GRCh38
NC_000004.11:g.6588771_6588773del , CM000666.1:g.6588771_6588773del	GRCh37
NC_000004.10:g.6639672_6639674del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_015274.3:c.440_442del MANE Select	NP_056089.1:p.Ser147del
ENST00000285599.8:c.440_442del MANE Select	ENSP00000285599.3:p.Ser147del
NM_001292038.1:c.440_442del	NP_001278967.1:p.Ser147del
NM_001292038.2:c.440_442del	NP_001278967.1:p.Ser147del
NM_015274.2:c.440_442del	NP_056089.1:p.Ser147del
ENST00000285599.7:c.440_442del	ENSP00000285599.3:p.Ser147del
ENST00000504248.5:c.440_442del	ENSP00000423129.1:p.Ser147del
ENST00000505907.1:c.436_438del
XM_011513423.1:c.440_442del	XP_011511725.1:p.Ser147del
XR_001741189.1:n.462_464del
XR_241647.3:n.462_464del
XR_241647.4:n.462_464del