Canonical Allele Identifier: CA993651214

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2024203864
• gnomAD v3: 19-12665295-T-TGCAGAA
• gnomAD v4: 19-12665295-T-TGCAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665304_12665309dup , CM000681.2:g.12665304_12665309dup	GRCh38
NC_000019.9:g.12776118_12776123dup , CM000681.1:g.12776118_12776123dup	GRCh37
NC_000019.8:g.12637118_12637123dup	NCBI36
NG_008318.1:g.6477_6482dup
NG_015814.1:g.3501_3506dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.436+51_436+56dup MANE Select	ENSP00000395473.2:n.436+51_436+56dup
ENST00000221363.8:c.436+51_436+56dup	ENSP00000221363.4:n.436+51_436+56dup
ENST00000456935.6:c.436+51_436+56dup	ENSP00000395473.2:n.436+51_436+56dup
ENST00000466794.5:n.418+51_418+56dup
ENST00000486847.2:c.333+51_333+56dup	ENSP00000470174.1:n.333+51_333+56dup
ENST00000596512.5:n.374+51_374+56dup
ENST00000597961.1:c.427+51_427+56dup	ENSP00000472710.1:n.427+51_427+56dup
ENST00000598876.1:c.463+51_463+56dup	ENSP00000470533.1:n.463+51_463+56dup
ENST00000600281.1:n.528_533dup
NM_000528.3:c.436+51_436+56dup	NP_000519.2:n.436+51_436+56dup
NM_001173498.1:c.436+51_436+56dup	NP_001166969.1:n.436+51_436+56dup
XM_005259913.1:c.436+51_436+56dup	XP_005259970.1:n.436+51_436+56dup
XM_005259913.2:c.436+51_436+56dup	XP_005259970.1:n.436+51_436+56dup
XM_024451518.1:c.-583+51_-583+56dup	XP_024307286.1:n.-583+51_-583+56dup
NM_000528.4:c.436+51_436+56dup MANE Select	NP_000519.2:n.436+51_436+56dup
NM_001173498.2:c.436+51_436+56dup	NP_001166969.1:n.436+51_436+56dup