Canonical Allele Identifier: CA505626690

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1151199
• ClinVar RCV Id: RCV001492046
• dbSNP Id: rs1329607881
• gnomAD v3: 19-12665764-C-T
• gnomAD v4: 19-12665764-C-T
• MyVariant Identifiers: chr19:g.12776578C>T (hg19) ; chr19:g.12665764C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665764C>T , CM000681.2:g.12665764C>T	GRCh38
NC_000019.9:g.12776578C>T , CM000681.1:g.12776578C>T	GRCh37
NC_000019.8:g.12637578C>T	NCBI36
NG_008318.1:g.6014G>A
NG_015814.1:g.3961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.201G>A MANE Select	ENSP00000395473.2:p.Leu67=
ENST00000221363.8:c.201G>A	ENSP00000221363.4:p.Leu67=
ENST00000456935.6:c.201G>A	ENSP00000395473.2:p.Leu67=
ENST00000466794.5:n.183G>A
ENST00000486847.2:c.160-239G>A	ENSP00000470174.1:n.160-239G>A
ENST00000596512.5:n.201-239G>A
ENST00000597961.1:c.192G>A	ENSP00000472710.1:p.Leu64=
ENST00000598876.1:c.228G>A	ENSP00000470533.1:p.Leu76=
ENST00000600281.1:n.242G>A
NM_000528.3:c.201G>A	NP_000519.2:p.Leu67=
NM_001173498.1:c.201G>A	NP_001166969.1:p.Leu67=
XM_005259913.1:c.201G>A	XP_005259970.1:p.Leu67=
XM_005259913.2:c.201G>A	XP_005259970.1:p.Leu67=
XM_024451518.1:c.-818G>A	XP_024307286.1:n.-818G>A
NM_000528.4:c.201G>A MANE Select	NP_000519.2:p.Leu67=
NM_001173498.2:c.201G>A	NP_001166969.1:p.Leu67=