Canonical Allele Identifier: CA404246404

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657020-A-G
• MyVariant Identifiers: chr19:g.12767834A>G (hg19) ; chr19:g.12657020A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1456T>C MANE Select	ENSP00000395473.2:p.Phe486Leu
ENST00000221363.8:c.1453T>C	ENSP00000221363.4:p.Phe485Leu
ENST00000433513.5:n.62T>C
ENST00000456935.6:c.1456T>C	ENSP00000395473.2:p.Phe486Leu
ENST00000466794.5:n.1355T>C
ENST00000495617.1:n.632T>C
ENST00000593686.1:c.66T>C
ENST00000595880.5:n.53T>C
NM_000528.3:c.1456T>C	NP_000519.2:p.Phe486Leu
NM_001173498.1:c.1453T>C	NP_001166969.1:p.Phe485Leu
XM_005259913.1:c.1459T>C	XP_005259970.1:p.Phe487Leu
XM_011528017.1:c.355T>C	XP_011526319.1:p.Phe119Leu
XM_005259913.2:c.1459T>C	XP_005259970.1:p.Phe487Leu
XM_024451518.1:c.355T>C	XP_024307286.1:p.Phe119Leu
NM_000528.4:c.1456T>C MANE Select	NP_000519.2:p.Phe486Leu
NM_001173498.2:c.1453T>C	NP_001166969.1:p.Phe485Leu