Canonical Allele Identifier: CA993646792

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2024007349
• gnomAD v3: 19-12657916-C-T
• gnomAD v4: 19-12657916-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657916C>T , CM000681.2:g.12657916C>T	GRCh38
NC_000019.9:g.12768730C>T , CM000681.1:g.12768730C>T	GRCh37
NC_000019.8:g.12629730C>T	NCBI36
NG_008318.1:g.13862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+147G>A MANE Select	ENSP00000395473.2:n.1309+147G>A
ENST00000221363.8:c.1306+147G>A	ENSP00000221363.4:n.1306+147G>A
ENST00000456935.6:c.1309+147G>A	ENSP00000395473.2:n.1309+147G>A
ENST00000465830.1:n.473+147G>A
ENST00000466794.5:n.1208+147G>A
ENST00000495617.1:n.281-156G>A
NM_000528.3:c.1309+147G>A	NP_000519.2:n.1309+147G>A
NM_001173498.1:c.1306+147G>A	NP_001166969.1:n.1306+147G>A
XM_005259913.1:c.1312+147G>A	XP_005259970.1:n.1312+147G>A
XM_011528017.1:c.208+147G>A	XP_011526319.1:n.208+147G>A
XM_005259913.2:c.1312+147G>A	XP_005259970.1:n.1312+147G>A
XM_024451518.1:c.208+147G>A	XP_024307286.1:n.208+147G>A
NM_000528.4:c.1309+147G>A MANE Select	NP_000519.2:n.1309+147G>A
NM_001173498.2:c.1306+147G>A	NP_001166969.1:n.1306+147G>A