Canonical Allele Identifier: CA404250037

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12661264-G-T
• MyVariant Identifiers: chr19:g.12772078G>T (hg19) ; chr19:g.12661264G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12661264G>T , CM000681.2:g.12661264G>T	GRCh38
NC_000019.9:g.12772078G>T , CM000681.1:g.12772078G>T	GRCh37
NC_000019.8:g.12633078G>T	NCBI36
NG_008318.1:g.10514C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1022C>A MANE Select	ENSP00000395473.2:p.Ala341Glu
ENST00000221363.8:c.1022C>A	ENSP00000221363.4:p.Ala341Glu
ENST00000456935.6:c.1022C>A	ENSP00000395473.2:p.Ala341Glu
ENST00000462144.1:n.215C>A
ENST00000466794.5:n.1004C>A
NM_000528.3:c.1022C>A	NP_000519.2:p.Ala341Glu
NM_001173498.1:c.1022C>A	NP_001166969.1:p.Ala341Glu
XM_005259913.1:c.1022C>A	XP_005259970.1:p.Ala341Glu
XM_011528017.1:c.4C>A	XP_011526319.1:p.Arg2Ser
XM_005259913.2:c.1022C>A	XP_005259970.1:p.Ala341Glu
XM_024451518.1:c.4C>A	XP_024307286.1:p.Arg2Ser
NM_000528.4:c.1022C>A MANE Select	NP_000519.2:p.Ala341Glu
NM_001173498.2:c.1022C>A	NP_001166969.1:p.Ala341Glu