Canonical Allele Identifier: CA9226621

Gene: MAN2B1

Linked Data

• dbSNP Id: rs746241988
• ExAC: 19:12769364 C / T
• gnomAD v2: 19-12769364-C-T
• MyVariant Identifiers: chr19:g.12769364C>T (hg19) ; chr19:g.12658550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658550C>T , CM000681.2:g.12658550C>T	GRCh38
NC_000019.9:g.12769364C>T , CM000681.1:g.12769364C>T	GRCh37
NC_000019.8:g.12630364C>T	NCBI36
NG_008318.1:g.13228G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1027-40G>A MANE Select	ENSP00000395473.2:n.1027-40G>A
ENST00000221363.8:c.1027-43G>A	ENSP00000221363.4:n.1027-43G>A
ENST00000456935.6:c.1027-40G>A	ENSP00000395473.2:n.1027-40G>A
ENST00000465830.1:n.68G>A
ENST00000466794.5:n.1009-206G>A
ENST00000495617.1:n.280+181G>A
NM_000528.3:c.1027-40G>A	NP_000519.2:n.1027-40G>A
NM_001173498.1:c.1027-43G>A	NP_001166969.1:n.1027-43G>A
XM_005259913.1:c.1027-37G>A	XP_005259970.1:n.1027-37G>A
XM_011528017.1:c.9-206G>A	XP_011526319.1:n.9-206G>A
XM_005259913.2:c.1027-37G>A	XP_005259970.1:n.1027-37G>A
XM_024451518.1:c.9-206G>A	XP_024307286.1:n.9-206G>A
NM_000528.4:c.1027-40G>A MANE Select	NP_000519.2:n.1027-40G>A
NM_001173498.2:c.1027-43G>A	NP_001166969.1:n.1027-43G>A