Canonical Allele Identifier: CA913015546

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12760968_12760969del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650154_12650155del , CM000681.2:g.12650154_12650155del	GRCh38
NC_000019.9:g.12760968_12760969del , CM000681.1:g.12760968_12760969del	GRCh37
NC_000019.8:g.12621968_12621969del	NCBI36
NG_008318.1:g.21623_21624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2114_2115del MANE Select	ENSP00000395473.2:p.Pro705ArgfsTer29
ENST00000221363.8:c.2111_2112del	ENSP00000221363.4:p.Pro704ArgfsTer29
ENST00000456935.6:c.2114_2115del	ENSP00000395473.2:p.Pro705ArgfsTer29
ENST00000466794.5:n.2704_2705del
NM_000528.3:c.2114_2115del	NP_000519.2:p.Pro705ArgfsTer29
NM_001173498.1:c.2111_2112del	NP_001166969.1:p.Pro704ArgfsTer29
XM_005259913.1:c.2117_2118del	XP_005259970.1:p.Pro706ArgfsTer29
XM_011528017.1:c.1013_1014del	XP_011526319.1:p.Pro338ArgfsTer29
XM_005259913.2:c.2117_2118del	XP_005259970.1:p.Pro706ArgfsTer29
XM_024451518.1:c.1013_1014del	XP_024307286.1:p.Pro338ArgfsTer29
NM_000528.4:c.2114_2115del MANE Select	NP_000519.2:p.Pro705ArgfsTer29
NM_001173498.2:c.2111_2112del	NP_001166969.1:p.Pro704ArgfsTer29