Canonical Allele Identifier: CA365049762

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857288-G-T
• MyVariant Identifiers: chr6:g.84567007G>T (hg19) ; chr6:g.83857288G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.286G>T MANE Select	ENSP00000358703.1:p.Ala96Ser
ENST00000369687.2:c.112G>T	ENSP00000358701.1:p.Ala38Ser
ENST00000369689.5:c.286G>T	ENSP00000358703.1:p.Ala96Ser
ENST00000635617.1:n.3699G>T
NM_001009994.2:c.286G>T	NP_001009994.1:p.Ala96Ser
NR_103525.1:n.343G>T
NR_103525.2:n.281G>T
NM_001009994.3:c.286G>T MANE Select	NP_001009994.1:p.Ala96Ser
NM_001400774.1:c.-28+3127G>T	NP_001387703.1:n.-28+3127G>T
NM_001400899.1:c.349G>T	NP_001387828.1:p.Ala117Ser
NM_001400900.1:c.*3123G>T	NP_001387829.1:n.*3123G>T
NR_174603.1:n.234+3127G>T
NR_174604.1:n.296+3127G>T
NR_174605.1:n.455+3229G>T
NR_174622.1:n.3361G>T