Canonical Allele Identifier: CA229134

Gene: ITSN2

Linked Data

• ClinVar Variation Id: 100854
• ClinVar RCV Id: RCV000087216
• dbSNP Id: rs483352731
• MyVariant Identifiers: chr2:g.24428113C>A (hg19) ; chr2:g.24205244C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24205244C>A , CM000664.2:g.24205244C>A	GRCh38
NC_000002.11:g.24428113C>A , CM000664.1:g.24428113C>A	GRCh37
NC_000002.10:g.24281617C>A	NCBI36
NG_029516.1:g.160285G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355123.9:c.4732G>T MANE Select	ENSP00000347244.4:p.Ala1578Ser
ENST00000355123.8:c.4732G>T	ENSP00000347244.4:p.Ala1578Ser
ENST00000361999.7:c.4651G>T	ENSP00000354561.2:p.Ala1551Ser
ENST00000427234.5:c.268G>T
ENST00000449392.1:c.166G>T
ENST00000478720.1:n.450G>T
ENST00000622089.4:c.4681G>T	ENSP00000479408.1:p.Ala1561Ser
NM_006277.2:c.4732G>T	NP_006268.2:p.Ala1578Ser
NM_019595.3:c.4651G>T	NP_062541.3:p.Ala1551Ser
NM_001348181.1:c.4690G>T	NP_001335110.1:p.Ala1564Ser
NM_001348182.1:c.4612G>T	NP_001335111.1:p.Ala1538Ser
XM_024452930.1:c.4732G>T	XP_024308698.1:p.Ala1578Ser
XM_024452931.1:c.4732G>T	XP_024308699.1:p.Ala1578Ser
XM_024452932.1:c.4690G>T	XP_024308700.1:p.Ala1564Ser
XM_024452933.1:c.4693G>T	XP_024308701.1:p.Ala1565Ser
XM_024452934.1:c.4651G>T	XP_024308702.1:p.Ala1551Ser
XM_024452935.1:c.4609G>T	XP_024308703.1:p.Ala1537Ser
XM_024452937.1:c.2428G>T	XP_024308705.1:p.Ala810Ser
XR_002959302.1:n.4752G>T
NM_001348181.2:c.4690G>T	NP_001335110.1:p.Ala1564Ser
NM_001348182.2:c.4612G>T	NP_001335111.1:p.Ala1538Ser
NM_006277.3:c.4732G>T MANE Select	NP_006268.2:p.Ala1578Ser
NM_019595.4:c.4651G>T	NP_062541.3:p.Ala1551Ser