Canonical Allele Identifier: CA913015545

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12760916_12760917del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650102_12650103del , CM000681.2:g.12650102_12650103del	GRCh38
NC_000019.9:g.12760916_12760917del , CM000681.1:g.12760916_12760917del	GRCh37
NC_000019.8:g.12621916_12621917del	NCBI36
NG_008318.1:g.21676_21677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2165+2_2165+3del MANE Select	ENSP00000395473.2:n.2165+2_2165+3del
ENST00000221363.8:c.2162+2_2162+3del	ENSP00000221363.4:n.2162+2_2162+3del
ENST00000456935.6:c.2165+2_2165+3del	ENSP00000395473.2:n.2165+2_2165+3del
ENST00000466794.5:n.2755+2_2755+3del
NM_000528.3:c.2165+2_2165+3del	NP_000519.2:n.2165+2_2165+3del
NM_001173498.1:c.2162+2_2162+3del	NP_001166969.1:n.2162+2_2162+3del
XM_005259913.1:c.2168+2_2168+3del	XP_005259970.1:n.2168+2_2168+3del
XM_011528017.1:c.1064+2_1064+3del	XP_011526319.1:n.1064+2_1064+3del
XM_005259913.2:c.2168+2_2168+3del	XP_005259970.1:n.2168+2_2168+3del
XM_024451518.1:c.1064+2_1064+3del	XP_024307286.1:n.1064+2_1064+3del
NM_000528.4:c.2165+2_2165+3del MANE Select	NP_000519.2:n.2165+2_2165+3del
NM_001173498.2:c.2162+2_2162+3del	NP_001166969.1:n.2162+2_2162+3del