Canonical Allele Identifier: CA404258654

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1431080512
• gnomAD v2: 19-12776604-G-A
• gnomAD v4: 19-12665790-G-A
• MyVariant Identifiers: chr19:g.12776604G>A (hg19) ; chr19:g.12665790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665790G>A , CM000681.2:g.12665790G>A	GRCh38
NC_000019.9:g.12776604G>A , CM000681.1:g.12776604G>A	GRCh37
NC_000019.8:g.12637604G>A	NCBI36
NG_008318.1:g.5988C>T
NG_015814.1:g.3987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.175C>T MANE Select	ENSP00000395473.2:p.Gln59Ter
ENST00000221363.8:c.175C>T	ENSP00000221363.4:p.Gln59Ter
ENST00000456935.6:c.175C>T	ENSP00000395473.2:p.Gln59Ter
ENST00000466794.5:n.157C>T
ENST00000486847.2:c.160-265C>T	ENSP00000470174.1:n.160-265C>T
ENST00000596512.5:n.201-265C>T
ENST00000597961.1:c.166C>T	ENSP00000472710.1:p.Gln56Ter
ENST00000598876.1:c.202C>T	ENSP00000470533.1:p.Gln68Ter
ENST00000600281.1:n.216C>T
NM_000528.3:c.175C>T	NP_000519.2:p.Gln59Ter
NM_001173498.1:c.175C>T	NP_001166969.1:p.Gln59Ter
XM_005259913.1:c.175C>T	XP_005259970.1:p.Gln59Ter
XM_005259913.2:c.175C>T	XP_005259970.1:p.Gln59Ter
XM_024451518.1:c.-844C>T	XP_024307286.1:n.-844C>T
NM_000528.4:c.175C>T MANE Select	NP_000519.2:p.Gln59Ter
NM_001173498.2:c.175C>T	NP_001166969.1:p.Gln59Ter