Canonical Allele Identifier: CA365049788

Gene: RIPPLY2

Linked Data

• MyVariant Identifiers: chr6:g.84567020T>A (hg19) ; chr6:g.83857301T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857301T>A , CM000668.2:g.83857301T>A	GRCh38
NC_000006.11:g.84567020T>A , CM000668.1:g.84567020T>A	GRCh37
NC_000006.10:g.84623739T>A	NCBI36
NG_046722.1:g.9036T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.299T>A MANE Select	ENSP00000358703.1:p.Leu100Gln
ENST00000369687.2:c.125T>A	ENSP00000358701.1:p.Leu42Gln
ENST00000369689.5:c.299T>A	ENSP00000358703.1:p.Leu100Gln
ENST00000635617.1:n.3712T>A
NM_001009994.2:c.299T>A	NP_001009994.1:p.Leu100Gln
NR_103525.1:n.356T>A
NR_103525.2:n.294T>A
NM_001009994.3:c.299T>A MANE Select	NP_001009994.1:p.Leu100Gln
NM_001400774.1:c.-28+3140T>A	NP_001387703.1:n.-28+3140T>A
NM_001400899.1:c.362T>A	NP_001387828.1:p.Leu121Gln
NM_001400900.1:c.*3136T>A	NP_001387829.1:n.*3136T>A
NR_174603.1:n.234+3140T>A
NR_174604.1:n.296+3140T>A
NR_174605.1:n.455+3242T>A
NR_174622.1:n.3374T>A