Canonical Allele Identifier: CA365049669

Gene: RIPPLY2

Linked Data

• MyVariant Identifiers: chr6:g.84566968T>C (hg19) ; chr6:g.83857249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857249T>C , CM000668.2:g.83857249T>C	GRCh38
NC_000006.11:g.84566968T>C , CM000668.1:g.84566968T>C	GRCh37
NC_000006.10:g.84623687T>C	NCBI36
NG_046722.1:g.8984T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.247T>C MANE Select	ENSP00000358703.1:p.Trp83Arg
ENST00000369687.2:c.73T>C	ENSP00000358701.1:p.Trp25Arg
ENST00000369689.5:c.247T>C	ENSP00000358703.1:p.Trp83Arg
ENST00000635617.1:n.3660T>C
NM_001009994.2:c.247T>C	NP_001009994.1:p.Trp83Arg
NR_103525.1:n.304T>C
NR_103525.2:n.242T>C
NM_001009994.3:c.247T>C MANE Select	NP_001009994.1:p.Trp83Arg
NM_001400774.1:c.-28+3088T>C	NP_001387703.1:n.-28+3088T>C
NM_001400899.1:c.310T>C	NP_001387828.1:p.Trp104Arg
NM_001400900.1:c.*3084T>C	NP_001387829.1:n.*3084T>C
NR_174603.1:n.234+3088T>C
NR_174604.1:n.296+3088T>C
NR_174605.1:n.455+3190T>C
NR_174622.1:n.3322T>C