Canonical Allele Identifier: CA404254837

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12775692T>C (hg19) ; chr19:g.12664878T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664878T>C , CM000681.2:g.12664878T>C	GRCh38
NC_000019.9:g.12775692T>C , CM000681.1:g.12775692T>C	GRCh37
NC_000019.8:g.12636692T>C	NCBI36
NG_008318.1:g.6900A>G
NG_015814.1:g.3075T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.544A>G MANE Select	ENSP00000395473.2:p.Thr182Ala
ENST00000221363.8:c.544A>G	ENSP00000221363.4:p.Thr182Ala
ENST00000456935.6:c.544A>G	ENSP00000395473.2:p.Thr182Ala
ENST00000466794.5:n.526A>G
ENST00000486847.2:c.333+474A>G	ENSP00000470174.1:n.333+474A>G
ENST00000596512.5:n.482A>G
ENST00000597961.1:c.535A>G	ENSP00000472710.1:p.Thr179Ala
NM_000528.3:c.544A>G	NP_000519.2:p.Thr182Ala
NM_001173498.1:c.544A>G	NP_001166969.1:p.Thr182Ala
XM_005259913.1:c.544A>G	XP_005259970.1:p.Thr182Ala
XM_005259913.2:c.544A>G	XP_005259970.1:p.Thr182Ala
XM_024451518.1:c.-475A>G	XP_024307286.1:n.-475A>G
NM_000528.4:c.544A>G MANE Select	NP_000519.2:p.Thr182Ala
NM_001173498.2:c.544A>G	NP_001166969.1:p.Thr182Ala