Canonical Allele Identifier: CA404243218

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12650132-C-G
• MyVariant Identifiers: chr19:g.12760946C>G (hg19) ; chr19:g.12650132C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650132C>G , CM000681.2:g.12650132C>G	GRCh38
NC_000019.9:g.12760946C>G , CM000681.1:g.12760946C>G	GRCh37
NC_000019.8:g.12621946C>G	NCBI36
NG_008318.1:g.21646G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2137G>C MANE Select	ENSP00000395473.2:p.Glu713Gln
ENST00000221363.8:c.2134G>C	ENSP00000221363.4:p.Glu712Gln
ENST00000456935.6:c.2137G>C	ENSP00000395473.2:p.Glu713Gln
ENST00000466794.5:n.2727G>C
NM_000528.3:c.2137G>C	NP_000519.2:p.Glu713Gln
NM_001173498.1:c.2134G>C	NP_001166969.1:p.Glu712Gln
XM_005259913.1:c.2140G>C	XP_005259970.1:p.Glu714Gln
XM_011528017.1:c.1036G>C	XP_011526319.1:p.Glu346Gln
XM_005259913.2:c.2140G>C	XP_005259970.1:p.Glu714Gln
XM_024451518.1:c.1036G>C	XP_024307286.1:p.Glu346Gln
NM_000528.4:c.2137G>C MANE Select	NP_000519.2:p.Glu713Gln
NM_001173498.2:c.2134G>C	NP_001166969.1:p.Glu712Gln