Canonical Allele Identifier: CA404237783

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1348247090
• gnomAD v2: 19-12758297-G-T
• gnomAD v4: 19-12647483-G-T
• MyVariant Identifiers: chr19:g.12758297G>T (hg19) ; chr19:g.12647483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647483G>T , CM000681.2:g.12647483G>T	GRCh38
NC_000019.9:g.12758297G>T , CM000681.1:g.12758297G>T	GRCh37
NC_000019.8:g.12619297G>T	NCBI36
NG_008318.1:g.24295C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2780C>A MANE Select	ENSP00000395473.2:p.Ser927Tyr
ENST00000221363.8:c.2777C>A	ENSP00000221363.4:p.Ser926Tyr
ENST00000456935.6:c.2780C>A	ENSP00000395473.2:p.Ser927Tyr
ENST00000466794.5:n.3370C>A
ENST00000469423.1:n.102C>A
ENST00000493218.5:n.191C>A
ENST00000597692.1:c.339C>A
NM_000528.3:c.2780C>A	NP_000519.2:p.Ser927Tyr
NM_001173498.1:c.2777C>A	NP_001166969.1:p.Ser926Tyr
XM_005259913.1:c.2783C>A	XP_005259970.1:p.Ser928Tyr
XM_011528017.1:c.1679C>A	XP_011526319.1:p.Ser560Tyr
XM_005259913.2:c.2783C>A	XP_005259970.1:p.Ser928Tyr
XM_024451518.1:c.1679C>A	XP_024307286.1:p.Ser560Tyr
NM_000528.4:c.2780C>A MANE Select	NP_000519.2:p.Ser927Tyr
NM_001173498.2:c.2777C>A	NP_001166969.1:p.Ser926Tyr