Canonical Allele Identifier: CA204874

Gene: COL4A2 COL4A2-AS1

Linked Data

• ClinVar Variation Id: 208773
• ClinVar RCV Id: RCV000190797 ; RCV000761267 ; RCV001579761 ; RCV003992225
• 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

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