Canonical Allele Identifier: CA993664986

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023776889
• gnomAD v3: 19-12649247-G-GTCAACC
• gnomAD v4: 19-12649247-G-GTCAACC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649248_12649253dup , CM000681.2:g.12649248_12649253dup	GRCh38
NC_000019.9:g.12760062_12760067dup , CM000681.1:g.12760062_12760067dup	GRCh37
NC_000019.8:g.12621062_12621067dup	NCBI36
NG_008318.1:g.22525_22530dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2356-37_2356-32dup MANE Select	ENSP00000395473.2:n.2356-37_2356-32dup
ENST00000221363.8:c.2353-37_2353-32dup	ENSP00000221363.4:n.2353-37_2353-32dup
ENST00000456935.6:c.2356-37_2356-32dup	ENSP00000395473.2:n.2356-37_2356-32dup
ENST00000466794.5:n.2946-37_2946-32dup
NM_000528.3:c.2356-37_2356-32dup	NP_000519.2:n.2356-37_2356-32dup
NM_001173498.1:c.2353-37_2353-32dup	NP_001166969.1:n.2353-37_2353-32dup
XM_005259913.1:c.2359-37_2359-32dup	XP_005259970.1:n.2359-37_2359-32dup
XM_011528017.1:c.1255-37_1255-32dup	XP_011526319.1:n.1255-37_1255-32dup
XM_005259913.2:c.2359-37_2359-32dup	XP_005259970.1:n.2359-37_2359-32dup
XM_024451518.1:c.1255-37_1255-32dup	XP_024307286.1:n.1255-37_1255-32dup
NM_000528.4:c.2356-37_2356-32dup MANE Select	NP_000519.2:n.2356-37_2356-32dup
NM_001173498.2:c.2353-37_2353-32dup	NP_001166969.1:n.2353-37_2353-32dup