Canonical Allele Identifier: CA174928
Gene: CSF2RB HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.36930468C>T
GRCh37 chr22:g.37326510C>T
Revel Score:
ENST00000403662 (MANE Select) 0.691
ENST00000539104 0.691
ENST00000262825 0.691
ENST00000406230 0.691
ENST00000421539 0.691
ENST00000536485 0.691
gnomAD v2:
22:37326510 C / T
gnomAD v3:
22:36930468 C / T
gnomAD v4:
chr22-36930468-C-T
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV000149403
RCV001850024
ClinVar Variation:
161978
dbSNP:
672601313
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36930468C>T , CM000684.2:g.36930468C>T GRCh38
NC_000022.10:g.37326510C>T , CM000684.1:g.37326510C>T GRCh37
NC_000022.9:g.35656456C>T NCBI36
NG_008040.1:g.21836C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403662.8:c.812C>T MANE Select ENSP00000384053.3:p.Ser271Leu
ENST00000262825.9:c.812C>T ENSP00000262825.6:p.Ser271Leu
ENST00000403662.7:c.812C>T ENSP00000384053.3:p.Ser271Leu
ENST00000406230.5:c.812C>T ENSP00000385271.1:p.Ser271Leu
ENST00000421539.1:c.572C>T ENSP00000393585.1:p.Ser191Leu
NM_000395.2:c.812C>T NP_000386.1:p.Ser271Leu
XM_005261340.2:c.812C>T XP_005261397.1:p.Ser271Leu
XM_011529903.1:c.812C>T XP_011528205.1:p.Ser271Leu
XM_011529904.1:c.812C>T XP_011528206.1:p.Ser271Leu
XM_011529905.1:c.812C>T XP_011528207.1:p.Ser271Leu
XM_005261340.3:c.812C>T XP_005261397.1:p.Ser271Leu
XM_011529903.2:c.812C>T XP_011528205.1:p.Ser271Leu
XM_011529904.2:c.812C>T XP_011528206.1:p.Ser271Leu
XM_011529905.2:c.812C>T XP_011528207.1:p.Ser271Leu
NM_000395.3:c.812C>T MANE Select NP_000386.1:p.Ser271Leu
Search 100 bp 5'
Search 100 bp 3'