Canonical Allele Identifier: CA9226596

Gene: MAN2B1

Linked Data

• dbSNP Id: rs758097119
• ExAC: 19:12769226 C / T
• gnomAD v2: 19-12769226-C-T
• gnomAD v4: 19-12658412-C-T
• MyVariant Identifiers: chr19:g.12769226C>T (hg19) ; chr19:g.12658412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658412C>T , CM000681.2:g.12658412C>T	GRCh38
NC_000019.9:g.12769226C>T , CM000681.1:g.12769226C>T	GRCh37
NC_000019.8:g.12630226C>T	NCBI36
NG_008318.1:g.13366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1109+16G>A MANE Select	ENSP00000395473.2:n.1109+16G>A
ENST00000221363.8:c.1106+16G>A	ENSP00000221363.4:n.1106+16G>A
ENST00000456935.6:c.1109+16G>A	ENSP00000395473.2:n.1109+16G>A
ENST00000465830.1:n.206G>A
ENST00000466794.5:n.1009-68G>A
ENST00000495617.1:n.280+319G>A
NM_000528.3:c.1109+16G>A	NP_000519.2:n.1109+16G>A
NM_001173498.1:c.1106+16G>A	NP_001166969.1:n.1106+16G>A
XM_005259913.1:c.1112+16G>A	XP_005259970.1:n.1112+16G>A
XM_011528017.1:c.9-68G>A	XP_011526319.1:n.9-68G>A
XM_005259913.2:c.1112+16G>A	XP_005259970.1:n.1112+16G>A
XM_024451518.1:c.9-68G>A	XP_024307286.1:n.9-68G>A
NM_000528.4:c.1109+16G>A MANE Select	NP_000519.2:n.1109+16G>A
NM_001173498.2:c.1106+16G>A	NP_001166969.1:n.1106+16G>A