Canonical Allele Identifier: CA9226430

Gene: MAN2B1

Linked Data

• dbSNP Id: rs776039493
• ExAC: 19:12767831 T / G
• gnomAD v2: 19-12767831-T-G
• gnomAD v4: 19-12657017-T-G
• MyVariant Identifiers: chr19:g.12767831T>G (hg19) ; chr19:g.12657017T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657017T>G , CM000681.2:g.12657017T>G	GRCh38
NC_000019.9:g.12767831T>G , CM000681.1:g.12767831T>G	GRCh37
NC_000019.8:g.12628831T>G	NCBI36
NG_008318.1:g.14761A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1459A>C MANE Select	ENSP00000395473.2:p.Lys487Gln
ENST00000221363.8:c.1456A>C	ENSP00000221363.4:p.Lys486Gln
ENST00000433513.5:n.65A>C
ENST00000456935.6:c.1459A>C	ENSP00000395473.2:p.Lys487Gln
ENST00000466794.5:n.1358A>C
ENST00000495617.1:n.635A>C
ENST00000593686.1:c.69A>C
ENST00000595880.5:n.56A>C
NM_000528.3:c.1459A>C	NP_000519.2:p.Lys487Gln
NM_001173498.1:c.1456A>C	NP_001166969.1:p.Lys486Gln
XM_005259913.1:c.1462A>C	XP_005259970.1:p.Lys488Gln
XM_011528017.1:c.358A>C	XP_011526319.1:p.Lys120Gln
XM_005259913.2:c.1462A>C	XP_005259970.1:p.Lys488Gln
XM_024451518.1:c.358A>C	XP_024307286.1:p.Lys120Gln
NM_000528.4:c.1459A>C MANE Select	NP_000519.2:p.Lys487Gln
NM_001173498.2:c.1456A>C	NP_001166969.1:p.Lys486Gln