Canonical Allele Identifier: CA538451421

Gene: COL5A2

Linked Data

• dbSNP Id: rs1420472548
• gnomAD v2: 2-189910806-G-T
• MyVariant Identifiers: chr2:g.189910806G>T (hg19) ; chr2:g.189046080G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046080G>T , CM000664.2:g.189046080G>T	GRCh38
NC_000002.11:g.189910806G>T , CM000664.1:g.189910806G>T	GRCh37
NC_000002.10:g.189619051G>T	NCBI36
NG_011799.1:g.138800C>A
NG_011799.2:g.138800C>A
NG_011799.3:g.184222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-173C>A MANE Select	ENSP00000364000.3:n.3202-173C>A
ENST00000374866.7:c.3202-173C>A	ENSP00000364000.3:n.3202-173C>A
ENST00000618828.1:c.2041-173C>A	ENSP00000482184.1:n.2041-173C>A
NM_000393.3:c.3202-173C>A	NP_000384.2:n.3202-173C>A
XM_011510573.1:c.3064-173C>A	XP_011508875.1:n.3064-173C>A
NM_000393.4:c.3202-173C>A	NP_000384.2:n.3202-173C>A
XM_011510573.3:c.3064-173C>A	XP_011508875.1:n.3064-173C>A
NM_000393.5:c.3202-173C>A MANE Select	NP_000384.2:n.3202-173C>A