Canonical Allele Identifier: CA349976474

Gene: ITGAV

Linked Data

• gnomAD v4: 2-186633336-G-T
• MyVariant Identifiers: chr2:g.187498063G>T (hg19) ; chr2:g.186633336G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.186633336G>T , CM000664.2:g.186633336G>T	GRCh38
NC_000002.11:g.187498063G>T , CM000664.1:g.187498063G>T	GRCh37
NC_000002.10:g.187206308G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696906.1:c.593G>T	ENSP00000512967.1:p.Arg198Ile
ENST00000696907.1:c.416G>T	ENSP00000512968.1:p.Arg139Ile
ENST00000696908.1:c.*3G>T	ENSP00000512969.1:n.*3G>T
ENST00000696909.1:c.416G>T	ENSP00000512970.1:p.Arg139Ile
ENST00000696910.1:c.593G>T	ENSP00000512971.1:p.Arg198Ile
ENST00000696911.1:c.593G>T	ENSP00000512972.1:p.Arg198Ile
ENST00000696912.1:c.593G>T	ENSP00000512973.1:p.Arg198Ile
ENST00000696913.1:c.593G>T	ENSP00000512974.1:p.Arg198Ile
ENST00000696914.1:c.*145G>T	ENSP00000512975.1:n.*145G>T
ENST00000696917.1:n.1102G>T
ENST00000696936.1:n.863G>T
ENST00000696937.1:c.593G>T	ENSP00000512982.1:p.Arg198Ile
ENST00000261023.8:c.593G>T MANE Select	ENSP00000261023.3:p.Arg198Ile
ENST00000261023.7:c.593G>T	ENSP00000261023.3:p.Arg198Ile
ENST00000374907.7:c.524-2746G>T	ENSP00000364042.3:n.524-2746G>T
ENST00000433736.6:c.455G>T	ENSP00000404291.2:p.Arg152Ile
NM_001144999.2:c.455G>T	NP_001138471.1:p.Arg152Ile
NM_001145000.2:c.524-2746G>T	NP_001138472.1:n.524-2746G>T
NM_002210.4:c.593G>T	NP_002201.1:p.Arg198Ile
XM_006712513.2:c.152G>T	XP_006712576.1:p.Arg51Ile
NM_002210.5:c.593G>T MANE Select	NP_002201.2:p.Arg198Ile
NM_001145000.3:c.524-2746G>T	NP_001138472.2:n.524-2746G>T
NM_001144999.3:c.455G>T	NP_001138471.2:p.Arg152Ile