Canonical Allele Identifier: CA14440668
Gene: QRICH2 HGNC NCBI

Linked Data

dbSNP Id: rs164009

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76287588A>G , CM000679.2:g.76287588A>G GRCh38
NC_000017.10:g.74283669A>G , CM000679.1:g.74283669A>G GRCh37
NC_000017.9:g.71795264A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000680821.2:c.3896+212T>C MANE Select ENSP00000504874.1:n.3896+212T>C
ENST00000262765.10:c.3398+212T>C ENSP00000262765.5:n.3398+212T>C
ENST00000636395.1:c.3896+212T>C ENSP00000490761.1:n.3896+212T>C
ENST00000680821.1:c.3896+212T>C ENSP00000504874.1:n.3896+212T>C
ENST00000262765.9:c.3398+212T>C ENSP00000262765.5:n.3398+212T>C
ENST00000447564.2:c.422+212T>C ENSP00000394461.2:n.422+212T>C
ENST00000524722.1:c.*162+212T>C ENSP00000432679.1:n.*162+212T>C
NM_032134.2:c.3398+212T>C NP_115510.1:n.3398+212T>C
NR_130649.1:n.669+212T>C
XM_005257728.2:c.3896+212T>C XP_005257785.1:n.3896+212T>C
XM_006722136.2:c.158+212T>C XP_006722199.1:n.158+212T>C
XM_011525344.1:c.3176+212T>C XP_011523646.1:n.3176+212T>C
XM_005257728.4:c.3896+212T>C XP_005257785.1:n.3896+212T>C
XM_006722136.3:c.158+212T>C XP_006722199.1:n.158+212T>C
XM_011525344.2:c.3176+212T>C XP_011523646.1:n.3176+212T>C
XM_017025206.2:c.3896+212T>C XP_016880695.1:n.3896+212T>C
XM_017025207.2:c.3836+212T>C XP_016880696.1:n.3836+212T>C
XM_017025208.1:c.-71+212T>C XP_016880697.1:n.-71+212T>C
NM_001388453.1:c.3896+212T>C MANE Select NP_001375382.1:n.3896+212T>C
NM_032134.3:c.3896+212T>C NP_115510.2:n.3896+212T>C
NR_130649.2:n.1265+212T>C