Canonical Allele Identifier: CA11308944

Gene: ITSN2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24209342C>T , CM000664.2:g.24209342C>T	GRCh38
NC_000002.11:g.24432211C>T , CM000664.1:g.24432211C>T	GRCh37
NC_000002.10:g.24285715C>T	NCBI36
NG_029516.1:g.156187G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006277.3:c.4474-121G>A MANE Select	NP_006268.2:n.4474-121G>A
ENST00000355123.9:c.4474-121G>A MANE Select	ENSP00000347244.4:n.4474-121G>A
NM_001348181.1:c.4432-121G>A	NP_001335110.1:n.4432-121G>A
NM_001348181.2:c.4432-121G>A	NP_001335110.1:n.4432-121G>A
NM_001348182.1:c.4354-121G>A	NP_001335111.1:n.4354-121G>A
NM_001348182.2:c.4354-121G>A	NP_001335111.1:n.4354-121G>A
NM_006277.2:c.4474-121G>A	NP_006268.2:n.4474-121G>A
NM_019595.3:c.4393-121G>A	NP_062541.3:n.4393-121G>A
NM_019595.4:c.4393-121G>A	NP_062541.3:n.4393-121G>A
ENST00000355123.8:c.4474-121G>A	ENSP00000347244.4:n.4474-121G>A
ENST00000361999.7:c.4393-121G>A	ENSP00000354561.2:n.4393-121G>A
ENST00000427234.5:c.131+476G>A
ENST00000479575.1:n.513-121G>A
ENST00000622089.4:c.4423-121G>A	ENSP00000479408.1:n.4423-121G>A
XM_024452930.1:c.4474-121G>A	XP_024308698.1:n.4474-121G>A
XM_024452931.1:c.4474-121G>A	XP_024308699.1:n.4474-121G>A
XM_024452932.1:c.4432-121G>A	XP_024308700.1:n.4432-121G>A
XM_024452933.1:c.4435-121G>A	XP_024308701.1:n.4435-121G>A
XM_024452934.1:c.4393-121G>A	XP_024308702.1:n.4393-121G>A
XM_024452935.1:c.4351-121G>A	XP_024308703.1:n.4351-121G>A
XM_024452937.1:c.2170-121G>A	XP_024308705.1:n.2170-121G>A
XR_002959302.1:n.4462-121G>A