Canonical Allele Identifier: CA2679552948

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857230-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857230T>C , CM000668.2:g.83857230T>C	GRCh38
NC_000006.11:g.84566949T>C , CM000668.1:g.84566949T>C	GRCh37
NC_000006.10:g.84623668T>C	NCBI36
NG_046722.1:g.8965T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.240-12T>C MANE Select	ENSP00000358703.1:n.240-12T>C
ENST00000369687.2:c.66-12T>C	ENSP00000358701.1:n.66-12T>C
ENST00000369689.5:c.240-12T>C	ENSP00000358703.1:n.240-12T>C
ENST00000635617.1:n.3641T>C
NM_001009994.2:c.240-12T>C	NP_001009994.1:n.240-12T>C
NR_103525.1:n.297-12T>C
NR_103525.2:n.235-12T>C
NM_001009994.3:c.240-12T>C MANE Select	NP_001009994.1:n.240-12T>C
NM_001400774.1:c.-28+3069T>C	NP_001387703.1:n.-28+3069T>C
NM_001400899.1:c.303-12T>C	NP_001387828.1:n.303-12T>C
NM_001400900.1:c.*3065T>C	NP_001387829.1:n.*3065T>C
NR_174603.1:n.234+3069T>C
NR_174604.1:n.296+3069T>C
NR_174605.1:n.455+3171T>C
NR_174622.1:n.3303T>C