Canonical Allele Identifier: CA15776494
Gene: COL4A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110378231A>G , CM000675.2:g.110378231A>G GRCh38
NC_000013.10:g.111030578A>G , CM000675.1:g.111030578A>G GRCh37
NC_000013.9:g.109828579A>G NCBI36
NG_032137.1:g.75948A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360467.7:c.180+20679A>G MANE Select ENSP00000353654.5:n.180+20679A>G
ENST00000400163.7:c.180+20679A>G ENSP00000383027.3:n.180+20679A>G
ENST00000650540.1:c.180+20679A>G ENSP00000497878.1:n.180+20679A>G
ENST00000360467.5:c.180+20679A>G ENSP00000353654.5:n.180+20679A>G
ENST00000400163.6:c.180+20679A>G ENSP00000383027.2:n.180+20679A>G
NM_001846.2:c.180+20679A>G NP_001837.2:n.180+20679A>G
NM_001846.3:c.180+20679A>G NP_001837.2:n.180+20679A>G
NM_001846.4:c.180+20679A>G MANE Select NP_001837.2:n.180+20679A>G
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