Canonical Allele Identifier: CA505770577

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758087G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647273G>C , CM000681.2:g.12647273G>C	GRCh38
NC_000019.9:g.12758087G>C , CM000681.1:g.12758087G>C	GRCh37
NC_000019.8:g.12619087G>C	NCBI36
NG_008318.1:g.24505C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2883C>G MANE Select	ENSP00000395473.2:p.Leu961=
ENST00000221363.8:c.2880C>G	ENSP00000221363.4:p.Leu960=
ENST00000456935.6:c.2883C>G	ENSP00000395473.2:p.Leu961=
ENST00000466794.5:n.3473C>G
ENST00000469423.1:n.312C>G
ENST00000493218.5:n.294C>G
ENST00000597692.1:c.442C>G
NM_000528.3:c.2883C>G	NP_000519.2:p.Leu961=
NM_001173498.1:c.2880C>G	NP_001166969.1:p.Leu960=
XM_005259913.1:c.2886C>G	XP_005259970.1:p.Leu962=
XM_011528017.1:c.1782C>G	XP_011526319.1:p.Leu594=
XM_005259913.2:c.2886C>G	XP_005259970.1:p.Leu962=
XM_024451518.1:c.1782C>G	XP_024307286.1:p.Leu594=
NM_000528.4:c.2883C>G MANE Select	NP_000519.2:p.Leu961=
NM_001173498.2:c.2880C>G	NP_001166969.1:p.Leu960=