Canonical Allele Identifier: CA11060626
Community Standard Title: NM_006277.3(ITSN2):c.1864-94C>T
Gene: ITSN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.24284937G>A , CM000664.2:g.24284937G>A GRCh38
NC_000002.11:g.24507806G>A , CM000664.1:g.24507806G>A GRCh37
NC_000002.10:g.24361310G>A NCBI36
NG_029516.1:g.80592C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006277.3:c.1864-94C>T MANE Select NP_006268.2:n.1864-94C>T
ENST00000355123.9:c.1864-94C>T MANE Select ENSP00000347244.4:n.1864-94C>T
NM_001348181.1:c.1822-94C>T NP_001335110.1:n.1822-94C>T
NM_001348181.2:c.1822-94C>T NP_001335110.1:n.1822-94C>T
NM_001348182.1:c.1863+1275C>T NP_001335111.1:n.1863+1275C>T
NM_001348182.2:c.1863+1275C>T NP_001335111.1:n.1863+1275C>T
NM_001348183.1:c.1863+1275C>T NP_001335112.1:n.1863+1275C>T
NM_001348183.2:c.1863+1275C>T NP_001335112.1:n.1863+1275C>T
NM_001348184.1:c.1821+1275C>T NP_001335113.1:n.1821+1275C>T
NM_001348184.2:c.1821+1275C>T NP_001335113.1:n.1821+1275C>T
NM_001348185.1:c.1864-94C>T NP_001335114.1:n.1864-94C>T
NM_001348185.2:c.1864-94C>T NP_001335114.1:n.1864-94C>T
NM_001348186.1:c.1863+1275C>T NP_001335115.1:n.1863+1275C>T
NM_001348186.2:c.1863+1275C>T NP_001335115.1:n.1863+1275C>T
NM_006277.2:c.1864-94C>T NP_006268.2:n.1864-94C>T
NM_019595.3:c.1863+1275C>T NP_062541.3:n.1863+1275C>T
NM_019595.4:c.1863+1275C>T NP_062541.3:n.1863+1275C>T
NM_147152.2:c.1864-94C>T NP_671494.2:n.1864-94C>T
NM_147152.3:c.1864-94C>T NP_671494.2:n.1864-94C>T
ENST00000355123.8:c.1864-94C>T ENSP00000347244.4:n.1864-94C>T
ENST00000361999.7:c.1863+1275C>T ENSP00000354561.2:n.1863+1275C>T
ENST00000406921.7:c.1864-94C>T ENSP00000384499.3:n.1864-94C>T
ENST00000622089.4:c.1893+1275C>T ENSP00000479408.1:n.1893+1275C>T
XM_024452930.1:c.1864-94C>T XP_024308698.1:n.1864-94C>T
XM_024452931.1:c.1864-94C>T XP_024308699.1:n.1864-94C>T
XM_024452932.1:c.1822-94C>T XP_024308700.1:n.1822-94C>T
XM_024452933.1:c.1864-94C>T XP_024308701.1:n.1864-94C>T
XM_024452934.1:c.1863+1275C>T XP_024308702.1:n.1863+1275C>T
XM_024452935.1:c.1821+1275C>T XP_024308703.1:n.1821+1275C>T
XM_024452936.1:c.1822-94C>T XP_024308704.1:n.1822-94C>T
XR_002959302.1:n.1852-94C>T