Canonical Allele Identifier: CA404237521

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758134A>G (hg19) ; chr19:g.12647320A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647320A>G , CM000681.2:g.12647320A>G	GRCh38
NC_000019.9:g.12758134A>G , CM000681.1:g.12758134A>G	GRCh37
NC_000019.8:g.12619134A>G	NCBI36
NG_008318.1:g.24458T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2836T>C MANE Select	ENSP00000395473.2:p.Phe946Leu
ENST00000221363.8:c.2833T>C	ENSP00000221363.4:p.Phe945Leu
ENST00000456935.6:c.2836T>C	ENSP00000395473.2:p.Phe946Leu
ENST00000466794.5:n.3426T>C
ENST00000469423.1:n.265T>C
ENST00000493218.5:n.247T>C
ENST00000597692.1:c.395T>C
NM_000528.3:c.2836T>C	NP_000519.2:p.Phe946Leu
NM_001173498.1:c.2833T>C	NP_001166969.1:p.Phe945Leu
XM_005259913.1:c.2839T>C	XP_005259970.1:p.Phe947Leu
XM_011528017.1:c.1735T>C	XP_011526319.1:p.Phe579Leu
XM_005259913.2:c.2839T>C	XP_005259970.1:p.Phe947Leu
XM_024451518.1:c.1735T>C	XP_024307286.1:p.Phe579Leu
NM_000528.4:c.2836T>C MANE Select	NP_000519.2:p.Phe946Leu
NM_001173498.2:c.2833T>C	NP_001166969.1:p.Phe945Leu