Canonical Allele Identifier: CA404238096

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1395487
• ClinVar RCV Id: RCV001891394
• dbSNP Id: rs1301597273
• gnomAD v2: 19-12758373-G-C
• gnomAD v4: 19-12647559-G-C
• MyVariant Identifiers: chr19:g.12758373G>C (hg19) ; chr19:g.12647559G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647559G>C , CM000681.2:g.12647559G>C	GRCh38
NC_000019.9:g.12758373G>C , CM000681.1:g.12758373G>C	GRCh37
NC_000019.8:g.12619373G>C	NCBI36
NG_008318.1:g.24219C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2704C>G MANE Select	ENSP00000395473.2:p.Leu902Val
ENST00000221363.8:c.2701C>G	ENSP00000221363.4:p.Leu901Val
ENST00000456935.6:c.2704C>G	ENSP00000395473.2:p.Leu902Val
ENST00000466794.5:n.3294C>G
ENST00000469423.1:n.26C>G
ENST00000493218.5:n.115C>G
ENST00000597692.1:c.263C>G
NM_000528.3:c.2704C>G	NP_000519.2:p.Leu902Val
NM_001173498.1:c.2701C>G	NP_001166969.1:p.Leu901Val
XM_005259913.1:c.2707C>G	XP_005259970.1:p.Leu903Val
XM_011528017.1:c.1603C>G	XP_011526319.1:p.Leu535Val
XM_005259913.2:c.2707C>G	XP_005259970.1:p.Leu903Val
XM_024451518.1:c.1603C>G	XP_024307286.1:p.Leu535Val
NM_000528.4:c.2704C>G MANE Select	NP_000519.2:p.Leu902Val
NM_001173498.2:c.2701C>G	NP_001166969.1:p.Leu901Val