Canonical Allele Identifier: CA451210584
Gene: RIPPLY2 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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