Canonical Allele Identifier: CA404246402

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1221950880
• gnomAD v2: 19-12767834-A-C
• gnomAD v4: 19-12657020-A-C
• MyVariant Identifiers: chr19:g.12767834A>C (hg19) ; chr19:g.12657020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657020A>C , CM000681.2:g.12657020A>C	GRCh38
NC_000019.9:g.12767834A>C , CM000681.1:g.12767834A>C	GRCh37
NC_000019.8:g.12628834A>C	NCBI36
NG_008318.1:g.14758T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1456T>G MANE Select	ENSP00000395473.2:p.Phe486Val
ENST00000221363.8:c.1453T>G	ENSP00000221363.4:p.Phe485Val
ENST00000433513.5:n.62T>G
ENST00000456935.6:c.1456T>G	ENSP00000395473.2:p.Phe486Val
ENST00000466794.5:n.1355T>G
ENST00000495617.1:n.632T>G
ENST00000593686.1:c.66T>G
ENST00000595880.5:n.53T>G
NM_000528.3:c.1456T>G	NP_000519.2:p.Phe486Val
NM_001173498.1:c.1453T>G	NP_001166969.1:p.Phe485Val
XM_005259913.1:c.1459T>G	XP_005259970.1:p.Phe487Val
XM_011528017.1:c.355T>G	XP_011526319.1:p.Phe119Val
XM_005259913.2:c.1459T>G	XP_005259970.1:p.Phe487Val
XM_024451518.1:c.355T>G	XP_024307286.1:p.Phe119Val
NM_000528.4:c.1456T>G MANE Select	NP_000519.2:p.Phe486Val
NM_001173498.2:c.1453T>G	NP_001166969.1:p.Phe485Val