Canonical Allele Identifier: CA15161277

Gene: ITGAV

Linked Data

• dbSNP Id: rs11685758
• gnomAD v2: 2-187533368-C-T
• gnomAD v3: 2-186668641-C-T
• gnomAD v4: 2-186668641-C-T
• MyVariant Identifiers: chr2:g.187533368C>T (hg19) ; chr2:g.186668641C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.186668641C>T , CM000664.2:g.186668641C>T	GRCh38
NC_000002.11:g.187533368C>T , CM000664.1:g.187533368C>T	GRCh37
NC_000002.10:g.187241613C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000496854.2:n.118C>T
ENST00000696906.1:c.2434-121C>T	ENSP00000512967.1:n.2434-121C>T
ENST00000696907.1:c.2149-121C>T	ENSP00000512968.1:n.2149-121C>T
ENST00000696908.1:c.*1844-121C>T	ENSP00000512969.1:n.*1844-121C>T
ENST00000696909.1:c.2257-121C>T	ENSP00000512970.1:n.2257-121C>T
ENST00000696910.1:c.2434-121C>T	ENSP00000512971.1:n.2434-121C>T
ENST00000696911.1:c.2434-121C>T	ENSP00000512972.1:n.2434-121C>T
ENST00000696912.1:c.2326-121C>T	ENSP00000512973.1:n.2326-121C>T
ENST00000696913.1:c.2353-121C>T	ENSP00000512974.1:n.2353-121C>T
ENST00000696914.1:c.*1986-121C>T	ENSP00000512975.1:n.*1986-121C>T
ENST00000696917.1:n.2965-121C>T
ENST00000696918.1:n.3380-121C>T
ENST00000696937.1:c.*104-121C>T	ENSP00000512982.1:n.*104-121C>T
ENST00000261023.8:c.2434-121C>T MANE Select	ENSP00000261023.3:n.2434-121C>T
ENST00000261023.7:c.2434-121C>T	ENSP00000261023.3:n.2434-121C>T
ENST00000374907.7:c.2326-121C>T	ENSP00000364042.3:n.2326-121C>T
ENST00000433736.6:c.2296-121C>T	ENSP00000404291.2:n.2296-121C>T
ENST00000496477.1:n.130-121C>T
ENST00000496854.1:n.118C>T
NM_001144999.2:c.2296-121C>T	NP_001138471.1:n.2296-121C>T
NM_001145000.2:c.2326-121C>T	NP_001138472.1:n.2326-121C>T
NM_002210.4:c.2434-121C>T	NP_002201.1:n.2434-121C>T
XM_006712513.2:c.1993-121C>T	XP_006712576.1:n.1993-121C>T
NM_002210.5:c.2434-121C>T MANE Select	NP_002201.2:n.2434-121C>T
NM_001145000.3:c.2326-121C>T	NP_001138472.2:n.2326-121C>T
NM_001144999.3:c.2296-121C>T	NP_001138471.2:n.2296-121C>T