Canonical Allele Identifier: CA365481931
Gene: HSF2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.122413558C>G
GRCh37 chr6:g.122734703C>G
Revel Score:
ENST00000368455 (MANE Select) 0.185
ENST00000452194 0.185
ClinVar RCV:
RCV004120431
ClinVar Variation:
2264171
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.122413558C>G , CM000668.2:g.122413558C>G GRCh38
NC_000006.11:g.122734703C>G , CM000668.1:g.122734703C>G GRCh37
NC_000006.10:g.122776402C>G NCBI36
NG_029607.1:g.19008C>G
NG_029607.2:g.19008C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368455.9:c.364C>G MANE Select ENSP00000357440.4:p.Arg122Gly
ENST00000368455.8:c.364C>G ENSP00000357440.4:p.Arg122Gly
ENST00000452194.5:c.364C>G ENSP00000400380.1:p.Arg122Gly
NM_001135564.1:c.364C>G NP_001129036.1:p.Arg122Gly
NM_001243094.1:c.364C>G NP_001230023.1:p.Arg122Gly
NM_004506.3:c.364C>G NP_004497.1:p.Arg122Gly
NM_001243094.2:c.364C>G NP_001230023.1:p.Arg122Gly
NM_004506.4:c.364C>G MANE Select NP_004497.1:p.Arg122Gly
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