Canonical Allele Identifier: CA404244085

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12652203G>A , CM000681.2:g.12652203G>A	GRCh38
NC_000019.9:g.12763017G>A , CM000681.1:g.12763017G>A	GRCh37
NC_000019.8:g.12624017G>A	NCBI36
NG_008318.1:g.19575C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1996C>T MANE Select	NP_000519.2:p.Gln666Ter
ENST00000456935.7:c.1996C>T MANE Select	ENSP00000395473.2:p.Gln666Ter
NM_000528.3:c.1996C>T	NP_000519.2:p.Gln666Ter
NM_001173498.1:c.1993C>T	NP_001166969.1:p.Gln665Ter
NM_001173498.2:c.1993C>T	NP_001166969.1:p.Gln665Ter
ENST00000221363.8:c.1993C>T	ENSP00000221363.4:p.Gln665Ter
ENST00000456935.6:c.1996C>T	ENSP00000395473.2:p.Gln666Ter
ENST00000466794.5:n.2586C>T
ENST00000595880.5:n.593C>T
ENST00000596591.1:c.329C>T
XM_005259913.1:c.1999C>T	XP_005259970.1:p.Gln667Ter
XM_005259913.2:c.1999C>T	XP_005259970.1:p.Gln667Ter
XM_011528017.1:c.895C>T	XP_011526319.1:p.Gln299Ter
XM_024451518.1:c.895C>T	XP_024307286.1:p.Gln299Ter