Canonical Allele Identifier: CA11269801

Gene: ITSN2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24203569C>G , CM000664.2:g.24203569C>G	GRCh38
NC_000002.11:g.24426438C>G , CM000664.1:g.24426438C>G	GRCh37
NC_000002.10:g.24279942C>G	NCBI36
NG_029516.1:g.161960G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006277.3:c.*57G>C MANE Select	NP_006268.2:n.*57G>C
ENST00000355123.9:c.*57G>C MANE Select	ENSP00000347244.4:n.*57G>C
NM_001348181.1:c.*57G>C	NP_001335110.1:n.*57G>C
NM_001348181.2:c.*57G>C	NP_001335110.1:n.*57G>C
NM_001348182.1:c.*57G>C	NP_001335111.1:n.*57G>C
NM_001348182.2:c.*57G>C	NP_001335111.1:n.*57G>C
NM_006277.2:c.*57G>C	NP_006268.2:n.*57G>C
NM_019595.3:c.*57G>C	NP_062541.3:n.*57G>C
NM_019595.4:c.*57G>C	NP_062541.3:n.*57G>C
ENST00000355123.8:c.*57G>C	ENSP00000347244.4:n.*57G>C
ENST00000361999.7:c.*57G>C	ENSP00000354561.2:n.*57G>C
ENST00000427234.5:c.687G>C
ENST00000478720.1:n.1330G>C
ENST00000622089.4:c.*57G>C	ENSP00000479408.1:n.*57G>C
XM_024452930.1:c.*57G>C	XP_024308698.1:n.*57G>C
XM_024452931.1:c.*57G>C	XP_024308699.1:n.*57G>C
XM_024452932.1:c.*57G>C	XP_024308700.1:n.*57G>C
XM_024452933.1:c.*57G>C	XP_024308701.1:n.*57G>C
XM_024452934.1:c.*57G>C	XP_024308702.1:n.*57G>C
XM_024452935.1:c.*57G>C	XP_024308703.1:n.*57G>C
XM_024452937.1:c.*57G>C	XP_024308705.1:n.*57G>C
XR_002959302.1:n.5171G>C