Canonical Allele Identifier: CA1238830475

Gene: ITSN2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24298897C>G , CM000664.2:g.24298897C>G	GRCh38
NC_000002.11:g.24521766C>G , CM000664.1:g.24521766C>G	GRCh37
NC_000002.10:g.24375270C>G	NCBI36
NG_029516.1:g.66632G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355123.9:c.1345-83G>C MANE Select	ENSP00000347244.4:n.1345-83G>C
ENST00000355123.8:c.1345-83G>C	ENSP00000347244.4:n.1345-83G>C
ENST00000361999.7:c.1345-83G>C	ENSP00000354561.2:n.1345-83G>C
ENST00000406921.7:c.1345-83G>C	ENSP00000384499.3:n.1345-83G>C
ENST00000412011.5:c.1420-83G>C	ENSP00000391224.1:n.1420-83G>C
ENST00000622089.4:c.1375-83G>C	ENSP00000479408.1:n.1375-83G>C
NM_006277.2:c.1345-83G>C	NP_006268.2:n.1345-83G>C
NM_019595.3:c.1345-83G>C	NP_062541.3:n.1345-83G>C
NM_147152.2:c.1345-83G>C	NP_671494.2:n.1345-83G>C
NM_001348181.1:c.1303-83G>C	NP_001335110.1:n.1303-83G>C
NM_001348182.1:c.1345-83G>C	NP_001335111.1:n.1345-83G>C
NM_001348183.1:c.1345-83G>C	NP_001335112.1:n.1345-83G>C
NM_001348184.1:c.1303-83G>C	NP_001335113.1:n.1303-83G>C
NM_001348185.1:c.1345-83G>C	NP_001335114.1:n.1345-83G>C
NM_001348186.1:c.1345-83G>C	NP_001335115.1:n.1345-83G>C
XM_024452930.1:c.1345-83G>C	XP_024308698.1:n.1345-83G>C
XM_024452931.1:c.1345-83G>C	XP_024308699.1:n.1345-83G>C
XM_024452932.1:c.1303-83G>C	XP_024308700.1:n.1303-83G>C
XM_024452933.1:c.1345-83G>C	XP_024308701.1:n.1345-83G>C
XM_024452934.1:c.1345-83G>C	XP_024308702.1:n.1345-83G>C
XM_024452935.1:c.1303-83G>C	XP_024308703.1:n.1303-83G>C
XM_024452936.1:c.1303-83G>C	XP_024308704.1:n.1303-83G>C
XR_002959302.1:n.1333-83G>C
NM_001348181.2:c.1303-83G>C	NP_001335110.1:n.1303-83G>C
NM_001348182.2:c.1345-83G>C	NP_001335111.1:n.1345-83G>C
NM_001348183.2:c.1345-83G>C	NP_001335112.1:n.1345-83G>C
NM_001348184.2:c.1303-83G>C	NP_001335113.1:n.1303-83G>C
NM_001348185.2:c.1345-83G>C	NP_001335114.1:n.1345-83G>C
NM_001348186.2:c.1345-83G>C	NP_001335115.1:n.1345-83G>C
NM_006277.3:c.1345-83G>C MANE Select	NP_006268.2:n.1345-83G>C
NM_019595.4:c.1345-83G>C	NP_062541.3:n.1345-83G>C
NM_147152.3:c.1345-83G>C	NP_671494.2:n.1345-83G>C