Canonical Allele Identifier: CA2450133972

Linked Data

dbSNP Id: rs7057398

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.106901299T>G , CM000685.2:g.106901299T>G GRCh38
NC_000023.10:g.106144529T>G , CM000685.1:g.106144529T>G GRCh37
NC_000023.9:g.106031185T>G NCBI36
NG_016445.1:g.6136T>G
NG_022934.1:g.7033A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276173.5:c.296+175A>C (RIPPLY1) MANE Select ENSP00000276173.4:n.296+175A>C
ENST00000541806.6:c.-179+795T>G (CLDN2) ENSP00000441283.1:n.-179+795T>G
ENST00000276173.4:c.296+175A>C (RIPPLY1) ENSP00000276173.4:n.296+175A>C
ENST00000411805.1:c.156-391A>C (RIPPLY1) ENSP00000400539.1:n.156-391A>C
ENST00000541806.5:c.-179+795T>G (CLDN2) ENSP00000441283.1:n.-179+795T>G
ENST00000604604.1:c.112-85513A>C (MORC4)
NM_001171092.1:c.-179+795T>G (CLDN2) NP_001164563.1:n.-179+795T>G
NM_001171706.1:c.156-391A>C (RIPPLY1) NP_001165177.1:n.156-391A>C
NM_138382.2:c.296+175A>C (RIPPLY1) NP_612391.1:n.296+175A>C
NM_138382.3:c.296+175A>C (RIPPLY1) MANE Select NP_612391.1:n.296+175A>C
NM_001171706.2:c.156-391A>C (RIPPLY1) NP_001165177.1:n.156-391A>C