Canonical Allele Identifier: CA1862648
Gene: MYO7B HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.127636902G>A
GRCh37 chr2:g.128394477G>A
Revel Score:
ENST00000389524 0.747
ENST00000428314 0.747
ENST00000409816 (MANE Select) 0.747
ENST00000409090 0.747
gnomAD v2:
2:128394477 G / A
gnomAD v3:
2:127636902 G / A
gnomAD v4:
chr2-127636902-G-A
Joint Max Group AF 0.00005936 (SAS)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00006246 (SAS)
ClinVar RCV:
RCV004081836
ClinVar Variation:
2212243
dbSNP:
371622372
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127636902G>A , CM000664.2:g.127636902G>A GRCh38
NC_000002.11:g.128394477G>A , CM000664.1:g.128394477G>A GRCh37
NC_000002.10:g.128110947G>A NCBI36
NG_042235.1:g.49885C>T
NG_052848.1:g.106214G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409816.8:c.6316G>A MANE Select ENSP00000386461.3:p.Glu2106Lys
ENST00000409090.1:c.2797G>A ENSP00000386850.1:p.Glu933Lys
ENST00000409816.6:c.6238G>A ENSP00000386461.2:p.Glu2080Lys
ENST00000428314.5:c.6238G>A ENSP00000415090.1:p.Glu2080Lys
ENST00000491278.5:n.3529G>A
ENST00000494959.1:n.1061G>A
ENST00000496841.5:n.4497G>A
NM_001080527.1:c.6238G>A NP_001073996.1:p.Glu2080Lys
XM_006712539.2:c.6316G>A XP_006712602.1:p.Glu2106Lys
XM_011511218.1:c.6325G>A XP_011509520.1:p.Glu2109Lys
XR_922927.1:n.6461G>A
XM_006712539.3:c.6316G>A XP_006712602.1:p.Glu2106Lys
XM_011511218.2:c.6325G>A XP_011509520.1:p.Glu2109Lys
XM_017004169.1:c.6382G>A XP_016859658.1:p.Glu2128Lys
XR_001738748.1:n.6522G>A
NM_001080527.2:c.6238G>A NP_001073996.1:p.Glu2080Lys
NM_001393586.1:c.6316G>A MANE Select NP_001380515.1:p.Glu2106Lys
NM_001393594.1:c.2797G>A NP_001380523.1:p.Glu933Lys
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