Canonical Allele Identifier: CA2582721006

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658367-G-GGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658369_12658371dup , CM000681.2:g.12658369_12658371dup	GRCh38
NC_000019.9:g.12769183_12769185dup , CM000681.1:g.12769183_12769185dup	GRCh37
NC_000019.8:g.12630183_12630185dup	NCBI36
NG_008318.1:g.13408_13410dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1110-26_1110-24dup MANE Select	ENSP00000395473.2:n.1110-26_1110-24dup
ENST00000221363.8:c.1107-26_1107-24dup	ENSP00000221363.4:n.1107-26_1107-24dup
ENST00000456935.6:c.1110-26_1110-24dup	ENSP00000395473.2:n.1110-26_1110-24dup
ENST00000465830.1:n.248_250dup
ENST00000466794.5:n.1009-26_1009-24dup
ENST00000495617.1:n.280+361_280+363dup
NM_000528.3:c.1110-26_1110-24dup	NP_000519.2:n.1110-26_1110-24dup
NM_001173498.1:c.1107-26_1107-24dup	NP_001166969.1:n.1107-26_1107-24dup
XM_005259913.1:c.1113-26_1113-24dup	XP_005259970.1:n.1113-26_1113-24dup
XM_011528017.1:c.9-26_9-24dup	XP_011526319.1:n.9-26_9-24dup
XM_005259913.2:c.1113-26_1113-24dup	XP_005259970.1:n.1113-26_1113-24dup
XM_024451518.1:c.9-26_9-24dup	XP_024307286.1:n.9-26_9-24dup
NM_000528.4:c.1110-26_1110-24dup MANE Select	NP_000519.2:n.1110-26_1110-24dup
NM_001173498.2:c.1107-26_1107-24dup	NP_001166969.1:n.1107-26_1107-24dup