Canonical Allele Identifier: CA404245006

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12766659T>A (hg19) ; chr19:g.12655845T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655845T>A , CM000681.2:g.12655845T>A	GRCh38
NC_000019.9:g.12766659T>A , CM000681.1:g.12766659T>A	GRCh37
NC_000019.8:g.12627659T>A	NCBI36
NG_008318.1:g.15933A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1679A>T MANE Select	ENSP00000395473.2:p.His560Leu
ENST00000221363.8:c.1676A>T	ENSP00000221363.4:p.His559Leu
ENST00000433513.5:n.285A>T
ENST00000456935.6:c.1679A>T	ENSP00000395473.2:p.His560Leu
ENST00000466794.5:n.2269A>T
ENST00000593686.1:c.272A>T
ENST00000595880.5:n.276A>T
ENST00000596591.1:c.43A>T
NM_000528.3:c.1679A>T	NP_000519.2:p.His560Leu
NM_001173498.1:c.1676A>T	NP_001166969.1:p.His559Leu
XM_005259913.1:c.1682A>T	XP_005259970.1:p.His561Leu
XM_011528017.1:c.578A>T	XP_011526319.1:p.His193Leu
XM_005259913.2:c.1682A>T	XP_005259970.1:p.His561Leu
XM_024451518.1:c.578A>T	XP_024307286.1:p.His193Leu
NM_000528.4:c.1679A>T MANE Select	NP_000519.2:p.His560Leu
NM_001173498.2:c.1676A>T	NP_001166969.1:p.His559Leu