Canonical Allele Identifier: CA9226352

Gene: MAN2B1

Linked Data

• dbSNP Id: rs199588220
• ExAC: 19:12766662 G / A
• gnomAD v2: 19-12766662-G-A
• gnomAD v3: 19-12655848-G-A
• gnomAD v4: 19-12655848-G-A
• COSMIC: COSM1214331
• MyVariant Identifiers: chr19:g.12766662G>A (hg19) ; chr19:g.12655848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655848G>A , CM000681.2:g.12655848G>A	GRCh38
NC_000019.9:g.12766662G>A , CM000681.1:g.12766662G>A	GRCh37
NC_000019.8:g.12627662G>A	NCBI36
NG_008318.1:g.15930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1676C>T MANE Select	ENSP00000395473.2:p.Ala559Val
ENST00000221363.8:c.1673C>T	ENSP00000221363.4:p.Ala558Val
ENST00000433513.5:n.282C>T
ENST00000456935.6:c.1676C>T	ENSP00000395473.2:p.Ala559Val
ENST00000466794.5:n.2266C>T
ENST00000593686.1:c.269C>T
ENST00000595880.5:n.273C>T
ENST00000596591.1:c.40C>T
NM_000528.3:c.1676C>T	NP_000519.2:p.Ala559Val
NM_001173498.1:c.1673C>T	NP_001166969.1:p.Ala558Val
XM_005259913.1:c.1679C>T	XP_005259970.1:p.Ala560Val
XM_011528017.1:c.575C>T	XP_011526319.1:p.Ala192Val
XM_005259913.2:c.1679C>T	XP_005259970.1:p.Ala560Val
XM_024451518.1:c.575C>T	XP_024307286.1:p.Ala192Val
NM_000528.4:c.1676C>T MANE Select	NP_000519.2:p.Ala559Val
NM_001173498.2:c.1673C>T	NP_001166969.1:p.Ala558Val