Canonical Allele Identifier: CA9225943

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 370174
• ClinVar RCV Id: RCV000411220
• dbSNP Id: rs767323371
• ExAC: 19:12758381 G / T
• gnomAD v2: 19-12758381-G-T
• gnomAD v4: 19-12647567-G-T
• MyVariant Identifiers: chr19:g.12758381G>T (hg19) ; chr19:g.12647567G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647567G>T , CM000681.2:g.12647567G>T	GRCh38
NC_000019.9:g.12758381G>T , CM000681.1:g.12758381G>T	GRCh37
NC_000019.8:g.12619381G>T	NCBI36
NG_008318.1:g.24211C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2696C>A MANE Select	ENSP00000395473.2:p.Ser899Ter
ENST00000221363.8:c.2693C>A	ENSP00000221363.4:p.Ser898Ter
ENST00000456935.6:c.2696C>A	ENSP00000395473.2:p.Ser899Ter
ENST00000466794.5:n.3286C>A
ENST00000469423.1:n.18C>A
ENST00000493218.5:n.107C>A
ENST00000597692.1:c.255C>A
NM_000528.3:c.2696C>A	NP_000519.2:p.Ser899Ter
NM_001173498.1:c.2693C>A	NP_001166969.1:p.Ser898Ter
XM_005259913.1:c.2699C>A	XP_005259970.1:p.Ser900Ter
XM_011528017.1:c.1595C>A	XP_011526319.1:p.Ser532Ter
XM_005259913.2:c.2699C>A	XP_005259970.1:p.Ser900Ter
XM_024451518.1:c.1595C>A	XP_024307286.1:p.Ser532Ter
NM_000528.4:c.2696C>A MANE Select	NP_000519.2:p.Ser899Ter
NM_001173498.2:c.2693C>A	NP_001166969.1:p.Ser898Ter