Canonical Allele Identifier: CA10588558

Gene: COL4A2 COL4A2-AS2

Linked Data

• ClinVar Variation Id: 265530
• ClinVar RCV Id: RCV000256038 ; RCV000850253 ; RCV004547651
• dbSNP Id: rs886039602
• gnomAD v2: 13-111114732-G-A
• gnomAD v3: 13-110462385-G-A
• gnomAD v4: 13-110462385-G-A
• MyVariant Identifiers: chr13:g.111114732G>A (hg19) ; chr13:g.110462385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110462385G>A , CM000675.2:g.110462385G>A	GRCh38
NC_000013.10:g.111114732G>A , CM000675.1:g.111114732G>A	GRCh37
NC_000013.9:g.109912733G>A	NCBI36
NG_032137.1:g.160102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360467.7:c.1776+1G>A (COL4A2) MANE Select	ENSP00000353654.5:n.1776+1G>A
ENST00000360467.5:c.1776+1G>A (COL4A2)	ENSP00000353654.5:n.1776+1G>A
ENST00000478681.1:n.273G>A (COL4A2)
NM_001846.2:c.1776+1G>A (COL4A2)	NP_001837.2:n.1776+1G>A
XR_158875.3:n.619+638C>T (COL4A2-AS2)
NM_001267044.1:c.72+638C>T (COL4A2-AS2)	NP_001253973.1:n.72+638C>T
NM_001846.3:c.1776+1G>A (COL4A2)	NP_001837.2:n.1776+1G>A
NM_001846.4:c.1776+1G>A (COL4A2) MANE Select	NP_001837.2:n.1776+1G>A
NR_171022.1:n.265+638C>T (COL4A2-AS2)