Canonical Allele Identifier: CA365049763

Gene: RIPPLY2

Linked Data

• MyVariant Identifiers: chr6:g.84567007G>C (hg19) ; chr6:g.83857288G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857288G>C , CM000668.2:g.83857288G>C	GRCh38
NC_000006.11:g.84567007G>C , CM000668.1:g.84567007G>C	GRCh37
NC_000006.10:g.84623726G>C	NCBI36
NG_046722.1:g.9023G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.286G>C MANE Select	ENSP00000358703.1:p.Ala96Pro
ENST00000369687.2:c.112G>C	ENSP00000358701.1:p.Ala38Pro
ENST00000369689.5:c.286G>C	ENSP00000358703.1:p.Ala96Pro
ENST00000635617.1:n.3699G>C
NM_001009994.2:c.286G>C	NP_001009994.1:p.Ala96Pro
NR_103525.1:n.343G>C
NR_103525.2:n.281G>C
NM_001009994.3:c.286G>C MANE Select	NP_001009994.1:p.Ala96Pro
NM_001400774.1:c.-28+3127G>C	NP_001387703.1:n.-28+3127G>C
NM_001400899.1:c.349G>C	NP_001387828.1:p.Ala117Pro
NM_001400900.1:c.*3123G>C	NP_001387829.1:n.*3123G>C
NR_174603.1:n.234+3127G>C
NR_174604.1:n.296+3127G>C
NR_174605.1:n.455+3229G>C
NR_174622.1:n.3361G>C