Canonical Allele Identifier: CA14663829
Gene: RUVBL2 HGNC NCBI

Linked Data

dbSNP Id: rs753307
gnomAD v2: 19-49518484-C-T
gnomAD v3: 19-49015227-C-T
gnomAD v4: 19-49015227-C-T
MyVariant Identifiers: chr19:g.49518484C>T (hg19) chr19:g.49015227C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49015227C>T , CM000681.2:g.49015227C>T GRCh38
NC_000019.9:g.49518484C>T , CM000681.1:g.49518484C>T GRCh37
NC_000019.8:g.54210296C>T NCBI36
NG_011464.1:g.6864G>A
NG_033041.1:g.26329C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000595090.6:c.1251+77C>T MANE Select ENSP00000473172.1:n.1251+77C>T
ENST00000221413.10:c.*460+77C>T ENSP00000221413.6:n.*460+77C>T
ENST00000594338.1:n.1660+77C>T
ENST00000595090.5:c.1251+77C>T ENSP00000473172.1:n.1251+77C>T
ENST00000596247.5:c.*1168+77C>T ENSP00000471538.1:n.*1168+77C>T
ENST00000601968.5:c.987-345C>T ENSP00000471524.1:n.987-345C>T
ENST00000627972.1:c.987-345C>T ENSP00000486242.1:n.987-345C>T
NM_006666.1:c.1251+77C>T NP_006657.1:n.1251+77C>T
XM_005258426.2:c.1149+77C>T XP_005258483.1:n.1149+77C>T
XM_005258427.1:c.1149+77C>T XP_005258484.1:n.1149+77C>T
XM_005258428.2:c.1116+77C>T XP_005258485.1:n.1116+77C>T
XM_011526330.1:c.1116+77C>T XP_011524632.1:n.1116+77C>T
NM_001321190.1:c.1149+77C>T NP_001308119.1:n.1149+77C>T
NM_001321191.1:c.1116+77C>T NP_001308120.1:n.1116+77C>T
NM_006666.2:c.1251+77C>T NP_006657.1:n.1251+77C>T
NR_135578.1:n.1704+77C>T
NM_006666.3:c.1251+77C>T MANE Select NP_006657.1:n.1251+77C>T
NM_001321190.2:c.1149+77C>T NP_001308119.1:n.1149+77C>T
NR_135578.2:n.1265+77C>T
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