Canonical Allele Identifier: CA204874
Gene: COL4A2 HGNC NCBI
COL4A2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208773
ClinVar RCV Id: RCV000190797 RCV000761267 RCV001579761
dbSNP Id: rs797044947
gnomAD v3: 13-110503855-G-A
gnomAD v4: 13-110503855-G-A
MyVariant Identifiers: chr13:g.111156202G>A (hg19) chr13:g.110503855G>A (hg38)
PubMed: PMID:22209246 PMID:22209247 PMID:22333902 PMID:24001601 PMID:24390199 PMID:25719457 PMID:26708157
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110503855G>A , CM000675.2:g.110503855G>A GRCh38
NC_000013.10:g.111156202G>A , CM000675.1:g.111156202G>A GRCh37
NC_000013.9:g.109954203G>A NCBI36
NG_032137.1:g.201572G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360467.7:c.4147G>A (COL4A2) MANE Select ENSP00000353654.5:p.Gly1383Arg
ENST00000649396.1:n.105G>A (COL4A2)
ENST00000650225.1:n.1802G>A (COL4A2)
ENST00000650322.1:n.79G>A (COL4A2)
ENST00000360467.5:c.4147G>A (COL4A2) ENSP00000353654.5:p.Gly1383Arg
NM_001846.2:c.4147G>A (COL4A2) NP_001837.2:p.Gly1383Arg
NR_046583.1:n.187-927C>T (COL4A2-AS1)
NM_001846.3:c.4147G>A (COL4A2) NP_001837.2:p.Gly1383Arg
NM_001846.4:c.4147G>A (COL4A2) MANE Select NP_001837.2:p.Gly1383Arg
Search 100 bp 5'
Search 100 bp 3'