Canonical Allele Identifier: CA323082

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 213077
• ClinVar RCV Id: RCV000198563 ; RCV001657982 ; RCV002057028
• dbSNP Id: rs5837121
• ExAC: 2:189923630 AT / A
• gnomAD v2: 2-189923630-AT-A
• gnomAD v3: 2-189058904-AT-A
• gnomAD v4: 2-189058904-AT-A
• MyVariant Identifiers: chr2:g.189923634del (hg19) ; chr2:g.189923633del (hg19) ; chr2:g.189923631del (hg19) ; chr2:g.189058908del (hg38) ; chr2:g.189058907del (hg38) ; chr2:g.189058905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058916del , CM000664.2:g.189058916del	GRCh38
NC_000002.11:g.189923642del , CM000664.1:g.189923642del	GRCh37
NC_000002.10:g.189631887del	NCBI36
NG_011799.1:g.125975del
NG_011799.2:g.125975del
NG_011799.3:g.171397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-12del MANE Select	ENSP00000364000.3:n.2086-12del
ENST00000374866.7:c.2086-12del	ENSP00000364000.3:n.2086-12del
ENST00000470524.2:n.192-12del
ENST00000618828.1:c.925-12del	ENSP00000482184.1:n.925-12del
NM_000393.3:c.2086-12del	NP_000384.2:n.2086-12del
XM_011510573.1:c.1948-12del	XP_011508875.1:n.1948-12del
NM_000393.4:c.2086-12del	NP_000384.2:n.2086-12del
XM_011510573.3:c.1948-12del	XP_011508875.1:n.1948-12del
NM_000393.5:c.2086-12del MANE Select	NP_000384.2:n.2086-12del