Canonical Allele Identifier: CA505624946

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12656990-G-A
• MyVariant Identifiers: chr19:g.12767804G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656990G>A , CM000681.2:g.12656990G>A	GRCh38
NC_000019.9:g.12767804G>A , CM000681.1:g.12767804G>A	GRCh37
NC_000019.8:g.12628804G>A	NCBI36
NG_008318.1:g.14788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1486C>T MANE Select	ENSP00000395473.2:p.Leu496=
ENST00000221363.8:c.1483C>T	ENSP00000221363.4:p.Leu495=
ENST00000433513.5:n.92C>T
ENST00000456935.6:c.1486C>T	ENSP00000395473.2:p.Leu496=
ENST00000466794.5:n.1385C>T
ENST00000495617.1:n.662C>T
ENST00000593686.1:c.96C>T
ENST00000595880.5:n.83C>T
NM_000528.3:c.1486C>T	NP_000519.2:p.Leu496=
NM_001173498.1:c.1483C>T	NP_001166969.1:p.Leu495=
XM_005259913.1:c.1489C>T	XP_005259970.1:p.Leu497=
XM_011528017.1:c.385C>T	XP_011526319.1:p.Leu129=
XM_005259913.2:c.1489C>T	XP_005259970.1:p.Leu497=
XM_024451518.1:c.385C>T	XP_024307286.1:p.Leu129=
NM_000528.4:c.1486C>T MANE Select	NP_000519.2:p.Leu496=
NM_001173498.2:c.1483C>T	NP_001166969.1:p.Leu495=