Canonical Allele Identifier: CA2739274150

Gene: ITSN2

Linked Data

• ClinVar Variation Id: 2814487
• ClinVar RCV Id: RCV003680958

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24261560_24261563del , CM000664.2:g.24261560_24261563del	GRCh38
NC_000002.11:g.24484429_24484432del , CM000664.1:g.24484429_24484432del	GRCh37
NC_000002.10:g.24337933_24337936del	NCBI36
NG_029516.1:g.103967_103970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355123.9:c.2536_2537+2del
ENST00000355123.8:c.2536_2537+2del
ENST00000361999.7:c.2455_2456+2del
ENST00000406921.7:c.2536_2537+2del
ENST00000622089.4:c.2485_2486+2del
NM_006277.2:c.2536_2537+2del
NM_019595.3:c.2455_2456+2del
NM_147152.2:c.2536_2537+2del
NM_001348181.1:c.2494_2495+2del
NM_001348182.1:c.2416_2417+2del
NM_001348183.1:c.2455_2456+2del
NM_001348184.1:c.2413_2414+2del
NM_001348185.1:c.2497_2498+2del
NM_001348186.1:c.2416_2417+2del
XM_024452930.1:c.2536_2537+2del
XM_024452931.1:c.2536_2537+2del
XM_024452932.1:c.2494_2495+2del
XM_024452933.1:c.2497_2498+2del
XM_024452934.1:c.2455_2456+2del
XM_024452935.1:c.2413_2414+2del
XM_024452936.1:c.2494_2495+2del
XM_024452937.1:c.232_233+2del
XR_002959302.1:n.2524_2525+2del
NM_001348181.2:c.2494_2495+2del
NM_001348182.2:c.2416_2417+2del
NM_001348183.2:c.2455_2456+2del
NM_001348184.2:c.2413_2414+2del
NM_001348185.2:c.2497_2498+2del
NM_001348186.2:c.2416_2417+2del
NM_006277.3:c.2536_2537+2del
NM_019595.4:c.2455_2456+2del
NM_147152.3:c.2536_2537+2del