Canonical Allele Identifier: CA7049850
Gene: COL4A2 HGNC NCBI
COSMIC:
COSM5617946 (not active)
MyVariant.info:
GRCh38 chr13:g.110469223A>G
GRCh37 chr13:g.111121570A>G
Revel Score:
ENST00000360467 (MANE Select) 0.330
ENST00000257309 0.330
gnomAD v2:
13:111121570 A / G
gnomAD v3:
13:110469223 A / G
gnomAD v4:
chr13-110469223-A-G
Joint Max Group AF 0.09046605 (AMR)
Genomes Max Group AF 0.05767433 (AMR)
Exomes Max Group AF 0.10165921 (AMR)
ClinVar RCV:
RCV000224185
RCV000339830
ClinVar Variation:
235684
dbSNP:
78829338
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110469223A>G , CM000675.2:g.110469223A>G GRCh38
NC_000013.10:g.111121570A>G , CM000675.1:g.111121570A>G GRCh37
NC_000013.9:g.109919571A>G NCBI36
NG_032137.1:g.166940A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360467.7:c.2102A>G MANE Select ENSP00000353654.5:p.Lys701Arg
ENST00000494852.2:c.22A>G
ENST00000360467.5:c.2102A>G ENSP00000353654.5:p.Lys701Arg
ENST00000494852.1:n.7A>G
NM_001846.2:c.2102A>G NP_001837.2:p.Lys701Arg
NM_001846.3:c.2102A>G NP_001837.2:p.Lys701Arg
NM_001846.4:c.2102A>G MANE Select NP_001837.2:p.Lys701Arg
Search 100 bp 5'
Search 100 bp 3'