Canonical Allele Identifier: CA1860759
Gene: MYO7B HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.127582391C>T
GRCh37 chr2:g.128339966C>T
Revel Score:
ENST00000389524 0.557
ENST00000428314 0.557
ENST00000409816 (MANE Select) 0.557
gnomAD v2:
2:128339966 C / T
gnomAD v3:
2:127582391 C / T
gnomAD v4:
chr2-127582391-C-T
Joint Max Group AF 0.00005111 (NFE)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00004814 (NFE)
ClinVar RCV:
RCV004079587
ClinVar Variation:
2211935
dbSNP:
754223763
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127582391C>T , CM000664.2:g.127582391C>T GRCh38
NC_000002.11:g.128339966C>T , CM000664.1:g.128339966C>T GRCh37
NC_000002.10:g.128056436C>T NCBI36
NG_052848.1:g.51703C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409816.8:c.1288C>T MANE Select ENSP00000386461.3:p.Arg430Trp
ENST00000409816.6:c.1288C>T ENSP00000386461.2:p.Arg430Trp
ENST00000428314.5:c.1288C>T ENSP00000415090.1:p.Arg430Trp
NM_001080527.1:c.1288C>T NP_001073996.1:p.Arg430Trp
XM_006712539.2:c.1288C>T XP_006712602.1:p.Arg430Trp
XM_011511218.1:c.1288C>T XP_011509520.1:p.Arg430Trp
XR_922927.1:n.1450C>T
XM_006712539.3:c.1288C>T XP_006712602.1:p.Arg430Trp
XM_011511218.2:c.1288C>T XP_011509520.1:p.Arg430Trp
XM_017004169.1:c.1288C>T XP_016859658.1:p.Arg430Trp
XR_001738748.1:n.1454C>T
XR_001738749.1:n.1454C>T
NM_001080527.2:c.1288C>T NP_001073996.1:p.Arg430Trp
NM_001393586.1:c.1288C>T MANE Select NP_001380515.1:p.Arg430Trp
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