Canonical Allele Identifier: CA404252998

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12774618A>C (hg19) ; chr19:g.12663804A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663804A>C , CM000681.2:g.12663804A>C	GRCh38
NC_000019.9:g.12774618A>C , CM000681.1:g.12774618A>C	GRCh37
NC_000019.8:g.12635618A>C	NCBI36
NG_008318.1:g.7974T>G
NG_015814.1:g.2001A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.662T>G MANE Select	ENSP00000395473.2:p.Leu221Arg
ENST00000221363.8:c.662T>G	ENSP00000221363.4:p.Leu221Arg
ENST00000456935.6:c.662T>G	ENSP00000395473.2:p.Leu221Arg
ENST00000466794.5:n.644T>G
ENST00000486847.2:c.365T>G	ENSP00000470174.1:p.Leu122Arg
NM_000528.3:c.662T>G	NP_000519.2:p.Leu221Arg
NM_001173498.1:c.662T>G	NP_001166969.1:p.Leu221Arg
XM_005259913.1:c.662T>G	XP_005259970.1:p.Leu221Arg
XM_005259913.2:c.662T>G	XP_005259970.1:p.Leu221Arg
XM_024451518.1:c.-357T>G	XP_024307286.1:n.-357T>G
NM_000528.4:c.662T>G MANE Select	NP_000519.2:p.Leu221Arg
NM_001173498.2:c.662T>G	NP_001166969.1:p.Leu221Arg