Canonical Allele Identifier: CA404256595

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665434-G-T
• MyVariant Identifiers: chr19:g.12776248G>T (hg19) ; chr19:g.12665434G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665434G>T , CM000681.2:g.12665434G>T	GRCh38
NC_000019.9:g.12776248G>T , CM000681.1:g.12776248G>T	GRCh37
NC_000019.8:g.12637248G>T	NCBI36
NG_008318.1:g.6344C>A
NG_015814.1:g.3631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.354C>A MANE Select	ENSP00000395473.2:p.Tyr118Ter
ENST00000221363.8:c.354C>A	ENSP00000221363.4:p.Tyr118Ter
ENST00000456935.6:c.354C>A	ENSP00000395473.2:p.Tyr118Ter
ENST00000466794.5:n.336C>A
ENST00000486847.2:c.251C>A	ENSP00000470174.1:p.Thr84Lys
ENST00000596512.5:n.292C>A
ENST00000597961.1:c.345C>A	ENSP00000472710.1:p.Tyr115Ter
ENST00000598876.1:c.381C>A	ENSP00000470533.1:p.Tyr127Ter
ENST00000600281.1:n.395C>A
NM_000528.3:c.354C>A	NP_000519.2:p.Tyr118Ter
NM_001173498.1:c.354C>A	NP_001166969.1:p.Tyr118Ter
XM_005259913.1:c.354C>A	XP_005259970.1:p.Tyr118Ter
XM_005259913.2:c.354C>A	XP_005259970.1:p.Tyr118Ter
XM_024451518.1:c.-665C>A	XP_024307286.1:n.-665C>A
NM_000528.4:c.354C>A MANE Select	NP_000519.2:p.Tyr118Ter
NM_001173498.2:c.354C>A	NP_001166969.1:p.Tyr118Ter