Canonical Allele Identifier: CA305470343

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1400389
• ClinVar RCV Id: RCV001932706
• dbSNP Id: rs139255957
• gnomAD v2: 19-12767773-G-T
• gnomAD v3: 19-12656959-G-T
• gnomAD v4: 19-12656959-G-T
• MyVariant Identifiers: chr19:g.12767773G>T (hg19) ; chr19:g.12656959G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656959G>T , CM000681.2:g.12656959G>T	GRCh38
NC_000019.9:g.12767773G>T , CM000681.1:g.12767773G>T	GRCh37
NC_000019.8:g.12628773G>T	NCBI36
NG_008318.1:g.14819C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1517C>A MANE Select	ENSP00000395473.2:p.Thr506Lys
ENST00000221363.8:c.1514C>A	ENSP00000221363.4:p.Thr505Lys
ENST00000433513.5:n.123C>A
ENST00000456935.6:c.1517C>A	ENSP00000395473.2:p.Thr506Lys
ENST00000466794.5:n.1416C>A
ENST00000495617.1:n.693C>A
ENST00000593686.1:c.127C>A
ENST00000595880.5:n.114C>A
NM_000528.3:c.1517C>A	NP_000519.2:p.Thr506Lys
NM_001173498.1:c.1514C>A	NP_001166969.1:p.Thr505Lys
XM_005259913.1:c.1520C>A	XP_005259970.1:p.Thr507Lys
XM_011528017.1:c.416C>A	XP_011526319.1:p.Thr139Lys
XM_005259913.2:c.1520C>A	XP_005259970.1:p.Thr507Lys
XM_024451518.1:c.416C>A	XP_024307286.1:p.Thr139Lys
NM_000528.4:c.1517C>A MANE Select	NP_000519.2:p.Thr506Lys
NM_001173498.2:c.1514C>A	NP_001166969.1:p.Thr505Lys