Canonical Allele Identifier: CA363204379
Gene: H2BC8 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.26216572C>G
GRCh37 chr6:g.26216800C>G
Revel Score:
ENST00000244601 0.044
gnomAD v4:
chr6-26216572-C-G
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar RCV:
RCV004344540
ClinVar Variation:
2604945
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26216572C>G , CM000668.2:g.26216572C>G GRCh38
NC_000006.11:g.26216800C>G , CM000668.1:g.26216800C>G GRCh37
NC_000006.10:g.26324779C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000541790.4:c.72G>C MANE Select ENSP00000445633.2:p.Lys24Asn
ENST00000541790.3:c.72G>C ENSP00000445633.2:p.Lys24Asn
NM_003518.3:c.72G>C NP_003509.1:p.Lys24Asn
NM_003518.4:c.72G>C MANE Select NP_003509.1:p.Lys24Asn
Search 100 bp 5'
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