Canonical Allele Identifier: CA2580081240
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1798667
ClinVar RCV Id: RCV002435638
dbSNP Id: rs1467185349
gnomAD v4: 10-110644453-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644453G>T , CM000672.2:g.110644453G>T GRCh38
NC_000010.10:g.112404211G>T , CM000672.1:g.112404211G>T GRCh37
NC_000010.9:g.112394201G>T NCBI36
NG_021177.1:g.5057G>T , LRG_382:g.5057G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.-2G>T MANE Select ENSP00000358532.3:n.-2G>T
ENST00000369519.3:c.-2G>T ENSP00000358532.3:n.-2G>T
NM_001134363.2:c.-2G>T NP_001127835.2:n.-2G>T
XM_017016103.2:c.26+1013G>T XP_016871592.1:n.26+1013G>T
NM_001134363.3:c.-2G>T MANE Select NP_001127835.2:n.-2G>T
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