Canonical Allele Identifier: CA505626669

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1151211
• ClinVar RCV Id: RCV001492059
• dbSNP Id: rs2024218273
• gnomAD v3: 19-12665737-G-A
• gnomAD v4: 19-12665737-G-A
• MyVariant Identifiers: chr19:g.12776551G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665737G>A , CM000681.2:g.12665737G>A	GRCh38
NC_000019.9:g.12776551G>A , CM000681.1:g.12776551G>A	GRCh37
NC_000019.8:g.12637551G>A	NCBI36
NG_008318.1:g.6041C>T
NG_015814.1:g.3934G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.228C>T MANE Select	ENSP00000395473.2:p.Gly76=
ENST00000221363.8:c.228C>T	ENSP00000221363.4:p.Gly76=
ENST00000456935.6:c.228C>T	ENSP00000395473.2:p.Gly76=
ENST00000466794.5:n.210C>T
ENST00000486847.2:c.160-212C>T	ENSP00000470174.1:n.160-212C>T
ENST00000596512.5:n.201-212C>T
ENST00000597961.1:c.219C>T	ENSP00000472710.1:p.Gly73=
ENST00000598876.1:c.255C>T	ENSP00000470533.1:p.Gly85=
ENST00000600281.1:n.269C>T
NM_000528.3:c.228C>T	NP_000519.2:p.Gly76=
NM_001173498.1:c.228C>T	NP_001166969.1:p.Gly76=
XM_005259913.1:c.228C>T	XP_005259970.1:p.Gly76=
XM_005259913.2:c.228C>T	XP_005259970.1:p.Gly76=
XM_024451518.1:c.-791C>T	XP_024307286.1:n.-791C>T
NM_000528.4:c.228C>T MANE Select	NP_000519.2:p.Gly76=
NM_001173498.2:c.228C>T	NP_001166969.1:p.Gly76=