Canonical Allele Identifier: CA349976485

Gene: ITGAV

Linked Data

• gnomAD v4: 2-186633341-C-T
• MyVariant Identifiers: chr2:g.187498068C>T (hg19) ; chr2:g.186633341C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.186633341C>T , CM000664.2:g.186633341C>T	GRCh38
NC_000002.11:g.187498068C>T , CM000664.1:g.187498068C>T	GRCh37
NC_000002.10:g.187206313C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696906.1:c.598C>T	ENSP00000512967.1:p.Leu200Phe
ENST00000696907.1:c.421C>T	ENSP00000512968.1:p.Leu141Phe
ENST00000696908.1:c.*8C>T	ENSP00000512969.1:n.*8C>T
ENST00000696909.1:c.421C>T	ENSP00000512970.1:p.Leu141Phe
ENST00000696910.1:c.598C>T	ENSP00000512971.1:p.Leu200Phe
ENST00000696911.1:c.598C>T	ENSP00000512972.1:p.Leu200Phe
ENST00000696912.1:c.598C>T	ENSP00000512973.1:p.Leu200Phe
ENST00000696913.1:c.598C>T	ENSP00000512974.1:p.Leu200Phe
ENST00000696914.1:c.*150C>T	ENSP00000512975.1:n.*150C>T
ENST00000696917.1:n.1107C>T
ENST00000696936.1:n.868C>T
ENST00000696937.1:c.598C>T	ENSP00000512982.1:p.Leu200Phe
ENST00000261023.8:c.598C>T MANE Select	ENSP00000261023.3:p.Leu200Phe
ENST00000261023.7:c.598C>T	ENSP00000261023.3:p.Leu200Phe
ENST00000374907.7:c.524-2741C>T	ENSP00000364042.3:n.524-2741C>T
ENST00000433736.6:c.460C>T	ENSP00000404291.2:p.Leu154Phe
NM_001144999.2:c.460C>T	NP_001138471.1:p.Leu154Phe
NM_001145000.2:c.524-2741C>T	NP_001138472.1:n.524-2741C>T
NM_002210.4:c.598C>T	NP_002201.1:p.Leu200Phe
XM_006712513.2:c.157C>T	XP_006712576.1:p.Leu53Phe
NM_002210.5:c.598C>T MANE Select	NP_002201.2:p.Leu200Phe
NM_001145000.3:c.524-2741C>T	NP_001138472.2:n.524-2741C>T
NM_001144999.3:c.460C>T	NP_001138471.2:p.Leu154Phe