Canonical Allele Identifier: CA451210585
Gene: RIPPLY2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.84567018T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.83857299T>G , CM000668.2:g.83857299T>G GRCh38
NC_000006.11:g.84567018T>G , CM000668.1:g.84567018T>G GRCh37
NC_000006.10:g.84623737T>G NCBI36
NG_046722.1:g.9034T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369689.6:c.297T>G MANE Select ENSP00000358703.1:p.Leu99=
ENST00000369687.2:c.123T>G ENSP00000358701.1:p.Leu41=
ENST00000369689.5:c.297T>G ENSP00000358703.1:p.Leu99=
ENST00000635617.1:n.3710T>G
NM_001009994.2:c.297T>G NP_001009994.1:p.Leu99=
NR_103525.1:n.354T>G
NR_103525.2:n.292T>G
NM_001009994.3:c.297T>G MANE Select NP_001009994.1:p.Leu99=
NM_001400774.1:c.-28+3138T>G NP_001387703.1:n.-28+3138T>G
NM_001400899.1:c.360T>G NP_001387828.1:p.Leu120=
NM_001400900.1:c.*3134T>G NP_001387829.1:n.*3134T>G
NR_174603.1:n.234+3138T>G
NR_174604.1:n.296+3138T>G
NR_174605.1:n.455+3240T>G
NR_174622.1:n.3372T>G