Canonical Allele Identifier: CA9226877

Gene: MAN2B1

Linked Data

• dbSNP Id: rs372860498
• ExAC: 19:12776556 C / A
• gnomAD v2: 19-12776556-C-A
• gnomAD v3: 19-12665742-C-A
• gnomAD v4: 19-12665742-C-A
• MyVariant Identifiers: chr19:g.12776556C>A (hg19) ; chr19:g.12665742C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665742C>A , CM000681.2:g.12665742C>A	GRCh38
NC_000019.9:g.12776556C>A , CM000681.1:g.12776556C>A	GRCh37
NC_000019.8:g.12637556C>A	NCBI36
NG_008318.1:g.6036G>T
NG_015814.1:g.3939C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.223G>T MANE Select	ENSP00000395473.2:p.Val75Leu
ENST00000221363.8:c.223G>T	ENSP00000221363.4:p.Val75Leu
ENST00000456935.6:c.223G>T	ENSP00000395473.2:p.Val75Leu
ENST00000466794.5:n.205G>T
ENST00000486847.2:c.160-217G>T	ENSP00000470174.1:n.160-217G>T
ENST00000596512.5:n.201-217G>T
ENST00000597961.1:c.214G>T	ENSP00000472710.1:p.Val72Leu
ENST00000598876.1:c.250G>T	ENSP00000470533.1:p.Val84Leu
ENST00000600281.1:n.264G>T
NM_000528.3:c.223G>T	NP_000519.2:p.Val75Leu
NM_001173498.1:c.223G>T	NP_001166969.1:p.Val75Leu
XM_005259913.1:c.223G>T	XP_005259970.1:p.Val75Leu
XM_005259913.2:c.223G>T	XP_005259970.1:p.Val75Leu
XM_024451518.1:c.-796G>T	XP_024307286.1:n.-796G>T
NM_000528.4:c.223G>T MANE Select	NP_000519.2:p.Val75Leu
NM_001173498.2:c.223G>T	NP_001166969.1:p.Val75Leu