Canonical Allele Identifier: CA404237999

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758348G>A (hg19) ; chr19:g.12647534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647534G>A , CM000681.2:g.12647534G>A	GRCh38
NC_000019.9:g.12758348G>A , CM000681.1:g.12758348G>A	GRCh37
NC_000019.8:g.12619348G>A	NCBI36
NG_008318.1:g.24244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2729C>T MANE Select	ENSP00000395473.2:p.Pro910Leu
ENST00000221363.8:c.2726C>T	ENSP00000221363.4:p.Pro909Leu
ENST00000456935.6:c.2729C>T	ENSP00000395473.2:p.Pro910Leu
ENST00000466794.5:n.3319C>T
ENST00000469423.1:n.51C>T
ENST00000493218.5:n.140C>T
ENST00000597692.1:c.288C>T
NM_000528.3:c.2729C>T	NP_000519.2:p.Pro910Leu
NM_001173498.1:c.2726C>T	NP_001166969.1:p.Pro909Leu
XM_005259913.1:c.2732C>T	XP_005259970.1:p.Pro911Leu
XM_011528017.1:c.1628C>T	XP_011526319.1:p.Pro543Leu
XM_005259913.2:c.2732C>T	XP_005259970.1:p.Pro911Leu
XM_024451518.1:c.1628C>T	XP_024307286.1:p.Pro543Leu
NM_000528.4:c.2729C>T MANE Select	NP_000519.2:p.Pro910Leu
NM_001173498.2:c.2726C>T	NP_001166969.1:p.Pro909Leu