Canonical Allele Identifier: CA783386426

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1216959377
• gnomAD v3: 19-12650313-T-TA
• gnomAD v4: 19-12650313-T-TA
• MyVariant Identifiers: chr19:g.12761127_12761128insA (hg19) ; chr19:g.12650313_12650314insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650315dup , CM000681.2:g.12650315dup	GRCh38
NC_000019.9:g.12761129dup , CM000681.1:g.12761129dup	GRCh37
NC_000019.8:g.12622129dup	NCBI36
NG_008318.1:g.21464dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-92dup MANE Select	ENSP00000395473.2:n.2047-92dup
ENST00000221363.8:c.2044-92dup	ENSP00000221363.4:n.2044-92dup
ENST00000456935.6:c.2047-92dup	ENSP00000395473.2:n.2047-92dup
ENST00000466794.5:n.2637-92dup
NM_000528.3:c.2047-92dup	NP_000519.2:n.2047-92dup
NM_001173498.1:c.2044-92dup	NP_001166969.1:n.2044-92dup
XM_005259913.1:c.2050-92dup	XP_005259970.1:n.2050-92dup
XM_011528017.1:c.946-92dup	XP_011526319.1:n.946-92dup
XM_005259913.2:c.2050-92dup	XP_005259970.1:n.2050-92dup
XM_024451518.1:c.946-92dup	XP_024307286.1:n.946-92dup
NM_000528.4:c.2047-92dup MANE Select	NP_000519.2:n.2047-92dup
NM_001173498.2:c.2044-92dup	NP_001166969.1:n.2044-92dup