Canonical Allele Identifier: CA404244772

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1235842171
• gnomAD v2: 19-12766554-G-T
• gnomAD v4: 19-12655740-G-T
• MyVariant Identifiers: chr19:g.12766554G>T (hg19) ; chr19:g.12655740G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655740G>T , CM000681.2:g.12655740G>T	GRCh38
NC_000019.9:g.12766554G>T , CM000681.1:g.12766554G>T	GRCh37
NC_000019.8:g.12627554G>T	NCBI36
NG_008318.1:g.16038C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1784C>A MANE Select	ENSP00000395473.2:p.Pro595His
ENST00000221363.8:c.1781C>A	ENSP00000221363.4:p.Pro594His
ENST00000433513.5:n.390C>A
ENST00000456935.6:c.1784C>A	ENSP00000395473.2:p.Pro595His
ENST00000466794.5:n.2374C>A
ENST00000593686.1:c.377C>A
ENST00000595880.5:n.381C>A
ENST00000596591.1:c.148C>A
NM_000528.3:c.1784C>A	NP_000519.2:p.Pro595His
NM_001173498.1:c.1781C>A	NP_001166969.1:p.Pro594His
XM_005259913.1:c.1787C>A	XP_005259970.1:p.Pro596His
XM_011528017.1:c.683C>A	XP_011526319.1:p.Pro228His
XM_005259913.2:c.1787C>A	XP_005259970.1:p.Pro596His
XM_024451518.1:c.683C>A	XP_024307286.1:p.Pro228His
NM_000528.4:c.1784C>A MANE Select	NP_000519.2:p.Pro595His
NM_001173498.2:c.1781C>A	NP_001166969.1:p.Pro594His