Canonical Allele Identifier: CA350959
Gene: MAN2B1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.12665743G>T
GRCh37 chr19:g.12776557G>T
Revel Score:
ENST00000456935 (MANE Select) 0.877
ENST00000536796 0.877
ENST00000221363 0.877
gnomAD v2:
19:12776557 G / T
gnomAD v3:
19:12665743 G / T
gnomAD v4:
chr19-12665743-G-T
Joint Max Group AF 0.00001962 (NFE)
Exomes Max Group AF 0.00001998 (NFE)
ClinVar RCV:
RCV000206959
RCV001572479
ClinVar Variation:
208251
dbSNP:
746702002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665743G>T , CM000681.2:g.12665743G>T GRCh38
NC_000019.9:g.12776557G>T , CM000681.1:g.12776557G>T GRCh37
NC_000019.8:g.12637557G>T NCBI36
NG_008318.1:g.6035C>A
NG_015814.1:g.3940G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.222C>A MANE Select ENSP00000395473.2:p.Asp74Glu
ENST00000221363.8:c.222C>A ENSP00000221363.4:p.Asp74Glu
ENST00000456935.6:c.222C>A ENSP00000395473.2:p.Asp74Glu
ENST00000466794.5:n.204C>A
ENST00000486847.2:c.160-218C>A ENSP00000470174.1:n.160-218C>A
ENST00000596512.5:n.201-218C>A
ENST00000597961.1:c.213C>A ENSP00000472710.1:p.Asp71Glu
ENST00000598876.1:c.249C>A ENSP00000470533.1:p.Asp83Glu
ENST00000600281.1:n.263C>A
NM_000528.3:c.222C>A NP_000519.2:p.Asp74Glu
NM_001173498.1:c.222C>A NP_001166969.1:p.Asp74Glu
XM_005259913.1:c.222C>A XP_005259970.1:p.Asp74Glu
XM_005259913.2:c.222C>A XP_005259970.1:p.Asp74Glu
XM_024451518.1:c.-797C>A XP_024307286.1:n.-797C>A
NM_000528.4:c.222C>A MANE Select NP_000519.2:p.Asp74Glu
NM_001173498.2:c.222C>A NP_001166969.1:p.Asp74Glu
Search 100 bp 5'
Search 100 bp 3'