Canonical Allele Identifier: CA505770968

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12760953C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650139C>G , CM000681.2:g.12650139C>G	GRCh38
NC_000019.9:g.12760953C>G , CM000681.1:g.12760953C>G	GRCh37
NC_000019.8:g.12621953C>G	NCBI36
NG_008318.1:g.21639G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2130G>C MANE Select	ENSP00000395473.2:p.Leu710=
ENST00000221363.8:c.2127G>C	ENSP00000221363.4:p.Leu709=
ENST00000456935.6:c.2130G>C	ENSP00000395473.2:p.Leu710=
ENST00000466794.5:n.2720G>C
NM_000528.3:c.2130G>C	NP_000519.2:p.Leu710=
NM_001173498.1:c.2127G>C	NP_001166969.1:p.Leu709=
XM_005259913.1:c.2133G>C	XP_005259970.1:p.Leu711=
XM_011528017.1:c.1029G>C	XP_011526319.1:p.Leu343=
XM_005259913.2:c.2133G>C	XP_005259970.1:p.Leu711=
XM_024451518.1:c.1029G>C	XP_024307286.1:p.Leu343=
NM_000528.4:c.2130G>C MANE Select	NP_000519.2:p.Leu710=
NM_001173498.2:c.2127G>C	NP_001166969.1:p.Leu709=