Canonical Allele Identifier: CA2623693541
Gene: COL4A2 HGNC NCBI

Linked Data

gnomAD v4: 13-110492025-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110492025C>A , CM000675.2:g.110492025C>A GRCh38
NC_000013.10:g.111144372C>A , CM000675.1:g.111144372C>A GRCh37
NC_000013.9:g.109942373C>A NCBI36
NG_032137.1:g.189742C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360467.7:c.3455-45C>A MANE Select ENSP00000353654.5:n.3455-45C>A
ENST00000650225.1:n.1110-45C>A
ENST00000360467.5:c.3455-45C>A ENSP00000353654.5:n.3455-45C>A
NM_001846.2:c.3455-45C>A NP_001837.2:n.3455-45C>A
NM_001846.3:c.3455-45C>A NP_001837.2:n.3455-45C>A
NM_001846.4:c.3455-45C>A MANE Select NP_001837.2:n.3455-45C>A
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