Canonical Allele Identifier: CA505770922

Gene: MAN2B1

Linked Data

• dbSNP Id: rs750890285
• gnomAD v2: 19-12760786-C-A
• gnomAD v4: 19-12649972-C-A
• COSMIC: COSM6149608
• MyVariant Identifiers: chr19:g.12760786C>A (hg19) ; chr19:g.12649972C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649972C>A , CM000681.2:g.12649972C>A	GRCh38
NC_000019.9:g.12760786C>A , CM000681.1:g.12760786C>A	GRCh37
NC_000019.8:g.12621786C>A	NCBI36
NG_008318.1:g.21806G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2208G>T MANE Select	ENSP00000395473.2:p.Pro736=
ENST00000221363.8:c.2205G>T	ENSP00000221363.4:p.Pro735=
ENST00000456935.6:c.2208G>T	ENSP00000395473.2:p.Pro736=
ENST00000466794.5:n.2798G>T
NM_000528.3:c.2208G>T	NP_000519.2:p.Pro736=
NM_001173498.1:c.2205G>T	NP_001166969.1:p.Pro735=
XM_005259913.1:c.2211G>T	XP_005259970.1:p.Pro737=
XM_011528017.1:c.1107G>T	XP_011526319.1:p.Pro369=
XM_005259913.2:c.2211G>T	XP_005259970.1:p.Pro737=
XM_024451518.1:c.1107G>T	XP_024307286.1:p.Pro369=
NM_000528.4:c.2208G>T MANE Select	NP_000519.2:p.Pro736=
NM_001173498.2:c.2205G>T	NP_001166969.1:p.Pro735=