Canonical Allele Identifier: CA305477987

Gene: MAN2B1

Linked Data

• dbSNP Id: rs141318574
• gnomAD v4: 19-12663788-C-T
• MyVariant Identifiers: chr19:g.12774602C>T (hg19) ; chr19:g.12663788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663788C>T , CM000681.2:g.12663788C>T	GRCh38
NC_000019.9:g.12774602C>T , CM000681.1:g.12774602C>T	GRCh37
NC_000019.8:g.12635602C>T	NCBI36
NG_008318.1:g.7990G>A
NG_015814.1:g.1985C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.678G>A MANE Select	ENSP00000395473.2:p.Lys226=
ENST00000221363.8:c.678G>A	ENSP00000221363.4:p.Lys226=
ENST00000456935.6:c.678G>A	ENSP00000395473.2:p.Lys226=
ENST00000466794.5:n.660G>A
ENST00000486847.2:c.381G>A	ENSP00000470174.1:p.Lys127=
NM_000528.3:c.678G>A	NP_000519.2:p.Lys226=
NM_001173498.1:c.678G>A	NP_001166969.1:p.Lys226=
XM_005259913.1:c.678G>A	XP_005259970.1:p.Lys226=
XM_005259913.2:c.678G>A	XP_005259970.1:p.Lys226=
XM_024451518.1:c.-341G>A	XP_024307286.1:n.-341G>A
NM_000528.4:c.678G>A MANE Select	NP_000519.2:p.Lys226=
NM_001173498.2:c.678G>A	NP_001166969.1:p.Lys226=