Canonical Allele Identifier: CA9226051

Gene: MAN2B1

Linked Data

• dbSNP Id: rs777253267
• ExAC: 19:12760009 C / G
• gnomAD v2: 19-12760009-C-G
• gnomAD v4: 19-12649195-C-G
• MyVariant Identifiers: chr19:g.12760009C>G (hg19) ; chr19:g.12649195C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649195C>G , CM000681.2:g.12649195C>G	GRCh38
NC_000019.9:g.12760009C>G , CM000681.1:g.12760009C>G	GRCh37
NC_000019.8:g.12621009C>G	NCBI36
NG_008318.1:g.22583G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2377G>C MANE Select	ENSP00000395473.2:p.Val793Leu
ENST00000221363.8:c.2374G>C	ENSP00000221363.4:p.Val792Leu
ENST00000456935.6:c.2377G>C	ENSP00000395473.2:p.Val793Leu
ENST00000466794.5:n.2967G>C
NM_000528.3:c.2377G>C	NP_000519.2:p.Val793Leu
NM_001173498.1:c.2374G>C	NP_001166969.1:p.Val792Leu
XM_005259913.1:c.2380G>C	XP_005259970.1:p.Val794Leu
XM_011528017.1:c.1276G>C	XP_011526319.1:p.Val426Leu
XM_005259913.2:c.2380G>C	XP_005259970.1:p.Val794Leu
XM_024451518.1:c.1276G>C	XP_024307286.1:p.Val426Leu
NM_000528.4:c.2377G>C MANE Select	NP_000519.2:p.Val793Leu
NM_001173498.2:c.2374G>C	NP_001166969.1:p.Val792Leu