Canonical Allele Identifier: CA11205210
Gene: ITGAV HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.186678500G>C
GRCh37 chr2:g.187543227G>C
gnomAD v2:
2:187543227 G / C
gnomAD v3:
2:186678500 G / C
gnomAD v4:
chr2-186678500-G-C
Joint Max Group AF 0.25976891 (NFE)
Genomes Max Group AF 0.26552428 (NFE)
Exomes Max Group AF 0.24966865 (NFE)
dbSNP:
11902171
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.186678500G>C , CM000664.2:g.186678500G>C GRCh38
NC_000002.11:g.187543227G>C , CM000664.1:g.187543227G>C GRCh37
NC_000002.10:g.187251472G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696906.1:c.3124+1231G>C ENSP00000512967.1:n.3124+1231G>C
ENST00000696907.1:c.*1208G>C ENSP00000512968.1:n.*1208G>C
ENST00000696908.1:c.*3765G>C ENSP00000512969.1:n.*3765G>C
ENST00000696909.1:c.*1208G>C ENSP00000512970.1:n.*1208G>C
ENST00000696910.1:c.*1208G>C ENSP00000512971.1:n.*1208G>C
ENST00000696911.1:c.*1208G>C ENSP00000512972.1:n.*1208G>C
ENST00000696912.1:c.*1208G>C ENSP00000512973.1:n.*1208G>C
ENST00000696913.1:c.*1208G>C ENSP00000512974.1:n.*1208G>C
ENST00000696914.1:c.*3907G>C ENSP00000512975.1:n.*3907G>C
ENST00000696917.1:n.4886G>C
ENST00000696918.1:n.5562G>C
ENST00000696919.1:n.5538G>C
ENST00000696937.1:c.*2025G>C ENSP00000512982.1:n.*2025G>C
ENST00000261023.8:c.*1208G>C MANE Select ENSP00000261023.3:n.*1208G>C
ENST00000261023.7:c.*1208G>C ENSP00000261023.3:n.*1208G>C
ENST00000374907.7:c.*1208G>C ENSP00000364042.3:n.*1208G>C
NM_001144999.2:c.*1208G>C NP_001138471.1:n.*1208G>C
NM_001145000.2:c.*1208G>C NP_001138472.1:n.*1208G>C
NM_002210.4:c.*1208G>C NP_002201.1:n.*1208G>C
XM_006712513.2:c.*1208G>C XP_006712576.1:n.*1208G>C
NM_002210.5:c.*1208G>C MANE Select NP_002201.2:n.*1208G>C
NM_001145000.3:c.*1208G>C NP_001138472.2:n.*1208G>C
NM_001144999.3:c.*1208G>C NP_001138471.2:n.*1208G>C
Search 100 bp 5'
Search 100 bp 3'