Canonical Allele Identifier: CA15070361
Gene: RHBDL2 HGNC NCBI
COSMIC:
COSN6455672 (not active)
MyVariant.info:
GRCh38 chr1:g.38914713T>C
GRCh37 chr1:g.39380385T>C
gnomAD v2:
1:39380385 T / C
gnomAD v3:
1:38914713 T / C
gnomAD v4:
chr1-38914713-T-C
Joint Max Group AF 0.68486564 (NFE)
Genomes Max Group AF 0.68486564 (NFE)
dbSNP:
4246511
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.38914713T>C , CM000663.2:g.38914713T>C GRCh38
NC_000001.10:g.39380385T>C , CM000663.1:g.39380385T>C GRCh37
NC_000001.9:g.39152972T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000372990.6:c.395+849A>G MANE Select ENSP00000362081.1:n.395+849A>G
ENST00000289248.6:c.395+849A>G ENSP00000289248.2:n.395+849A>G
ENST00000372990.5:c.395+849A>G ENSP00000362081.1:n.395+849A>G
NM_001304746.1:c.635+849A>G NP_001291675.1:n.635+849A>G
NM_017821.4:c.395+849A>G NP_060291.2:n.395+849A>G
XR_001737994.1:n.89+1085T>C
NM_017821.5:c.395+849A>G MANE Select NP_060291.2:n.395+849A>G
NM_001304746.2:c.635+849A>G NP_001291675.1:n.635+849A>G
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