Canonical Allele Identifier: CA404237468

Gene: MAN2B1

Linked Data

• dbSNP Id: rs139041112
• gnomAD v3: 19-12647307-C-A
• gnomAD v4: 19-12647307-C-A
• MyVariant Identifiers: chr19:g.12758121C>A (hg19) ; chr19:g.12647307C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647307C>A , CM000681.2:g.12647307C>A	GRCh38
NC_000019.9:g.12758121C>A , CM000681.1:g.12758121C>A	GRCh37
NC_000019.8:g.12619121C>A	NCBI36
NG_008318.1:g.24471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2849G>T MANE Select	ENSP00000395473.2:p.Arg950Leu
ENST00000221363.8:c.2846G>T	ENSP00000221363.4:p.Arg949Leu
ENST00000456935.6:c.2849G>T	ENSP00000395473.2:p.Arg950Leu
ENST00000466794.5:n.3439G>T
ENST00000469423.1:n.278G>T
ENST00000493218.5:n.260G>T
ENST00000597692.1:c.408G>T
NM_000528.3:c.2849G>T	NP_000519.2:p.Arg950Leu
NM_001173498.1:c.2846G>T	NP_001166969.1:p.Arg949Leu
XM_005259913.1:c.2852G>T	XP_005259970.1:p.Arg951Leu
XM_011528017.1:c.1748G>T	XP_011526319.1:p.Arg583Leu
XM_005259913.2:c.2852G>T	XP_005259970.1:p.Arg951Leu
XM_024451518.1:c.1748G>T	XP_024307286.1:p.Arg583Leu
NM_000528.4:c.2849G>T MANE Select	NP_000519.2:p.Arg950Leu
NM_001173498.2:c.2846G>T	NP_001166969.1:p.Arg949Leu