Canonical Allele Identifier: CA404242712

Gene: MAN2B1

Linked Data

• dbSNP Id: rs370551216
• gnomAD v4: 19-12649955-C-A
• MyVariant Identifiers: chr19:g.12760769C>A (hg19) ; chr19:g.12649955C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649955C>A , CM000681.2:g.12649955C>A	GRCh38
NC_000019.9:g.12760769C>A , CM000681.1:g.12760769C>A	GRCh37
NC_000019.8:g.12621769C>A	NCBI36
NG_008318.1:g.21823G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2225G>T MANE Select	ENSP00000395473.2:p.Arg742Leu
ENST00000221363.8:c.2222G>T	ENSP00000221363.4:p.Arg741Leu
ENST00000456935.6:c.2225G>T	ENSP00000395473.2:p.Arg742Leu
ENST00000466794.5:n.2815G>T
NM_000528.3:c.2225G>T	NP_000519.2:p.Arg742Leu
NM_001173498.1:c.2222G>T	NP_001166969.1:p.Arg741Leu
XM_005259913.1:c.2228G>T	XP_005259970.1:p.Arg743Leu
XM_011528017.1:c.1124G>T	XP_011526319.1:p.Arg375Leu
XM_005259913.2:c.2228G>T	XP_005259970.1:p.Arg743Leu
XM_024451518.1:c.1124G>T	XP_024307286.1:p.Arg375Leu
NM_000528.4:c.2225G>T MANE Select	NP_000519.2:p.Arg742Leu
NM_001173498.2:c.2222G>T	NP_001166969.1:p.Arg741Leu