Canonical Allele Identifier: CA404252557

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2024162958
• gnomAD v3: 19-12663712-G-C
• gnomAD v4: 19-12663712-G-C
• MyVariant Identifiers: chr19:g.12774526G>C (hg19) ; chr19:g.12663712G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663712G>C , CM000681.2:g.12663712G>C	GRCh38
NC_000019.9:g.12774526G>C , CM000681.1:g.12774526G>C	GRCh37
NC_000019.8:g.12635526G>C	NCBI36
NG_008318.1:g.8066C>G
NG_015814.1:g.1909G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.754C>G MANE Select	ENSP00000395473.2:p.Leu252Val
ENST00000221363.8:c.754C>G	ENSP00000221363.4:p.Leu252Val
ENST00000456935.6:c.754C>G	ENSP00000395473.2:p.Leu252Val
ENST00000466794.5:n.736C>G
ENST00000486847.2:c.457C>G	ENSP00000470174.1:p.Leu153Val
NM_000528.3:c.754C>G	NP_000519.2:p.Leu252Val
NM_001173498.1:c.754C>G	NP_001166969.1:p.Leu252Val
XM_005259913.1:c.754C>G	XP_005259970.1:p.Leu252Val
XM_005259913.2:c.754C>G	XP_005259970.1:p.Leu252Val
XM_024451518.1:c.-265C>G	XP_024307286.1:n.-265C>G
NM_000528.4:c.754C>G MANE Select	NP_000519.2:p.Leu252Val
NM_001173498.2:c.754C>G	NP_001166969.1:p.Leu252Val