Canonical Allele Identifier: CA404257882

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2815176
• ClinVar RCV Id: RCV003601596
• dbSNP Id: rs2024217585
• gnomAD v4: 19-12665713-G-T
• MyVariant Identifiers: chr19:g.12776527G>T (hg19) ; chr19:g.12665713G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665713G>T , CM000681.2:g.12665713G>T	GRCh38
NC_000019.9:g.12776527G>T , CM000681.1:g.12776527G>T	GRCh37
NC_000019.8:g.12637527G>T	NCBI36
NG_008318.1:g.6065C>A
NG_015814.1:g.3910G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.252C>A MANE Select	ENSP00000395473.2:p.Tyr84Ter
ENST00000221363.8:c.252C>A	ENSP00000221363.4:p.Tyr84Ter
ENST00000456935.6:c.252C>A	ENSP00000395473.2:p.Tyr84Ter
ENST00000466794.5:n.234C>A
ENST00000486847.2:c.160-188C>A	ENSP00000470174.1:n.160-188C>A
ENST00000596512.5:n.201-188C>A
ENST00000597961.1:c.243C>A	ENSP00000472710.1:p.Tyr81Ter
ENST00000598876.1:c.279C>A	ENSP00000470533.1:p.Tyr93Ter
ENST00000600281.1:n.293C>A
NM_000528.3:c.252C>A	NP_000519.2:p.Tyr84Ter
NM_001173498.1:c.252C>A	NP_001166969.1:p.Tyr84Ter
XM_005259913.1:c.252C>A	XP_005259970.1:p.Tyr84Ter
XM_005259913.2:c.252C>A	XP_005259970.1:p.Tyr84Ter
XM_024451518.1:c.-767C>A	XP_024307286.1:n.-767C>A
NM_000528.4:c.252C>A MANE Select	NP_000519.2:p.Tyr84Ter
NM_001173498.2:c.252C>A	NP_001166969.1:p.Tyr84Ter