Canonical Allele Identifier: CA404241022

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12649162-G-C
• MyVariant Identifiers: chr19:g.12759976G>C (hg19) ; chr19:g.12649162G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649162G>C , CM000681.2:g.12649162G>C	GRCh38
NC_000019.9:g.12759976G>C , CM000681.1:g.12759976G>C	GRCh37
NC_000019.8:g.12620976G>C	NCBI36
NG_008318.1:g.22616C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2410C>G MANE Select	ENSP00000395473.2:p.Leu804Val
ENST00000221363.8:c.2407C>G	ENSP00000221363.4:p.Leu803Val
ENST00000456935.6:c.2410C>G	ENSP00000395473.2:p.Leu804Val
ENST00000466794.5:n.3000C>G
NM_000528.3:c.2410C>G	NP_000519.2:p.Leu804Val
NM_001173498.1:c.2407C>G	NP_001166969.1:p.Leu803Val
XM_005259913.1:c.2413C>G	XP_005259970.1:p.Leu805Val
XM_011528017.1:c.1309C>G	XP_011526319.1:p.Leu437Val
XM_005259913.2:c.2413C>G	XP_005259970.1:p.Leu805Val
XM_024451518.1:c.1309C>G	XP_024307286.1:p.Leu437Val
NM_000528.4:c.2410C>G MANE Select	NP_000519.2:p.Leu804Val
NM_001173498.2:c.2407C>G	NP_001166969.1:p.Leu803Val