Canonical Allele Identifier: CA290399

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 136956
• ClinVar RCV Id: RCV000124515 ; RCV001139302 ; RCV002055504
• dbSNP Id: rs587780908
• ExAC: 2:189899892 A / G
• gnomAD v2: 2-189899892-A-G
• gnomAD v3: 2-189035166-A-G
• gnomAD v4: 2-189035166-A-G
• MyVariant Identifiers: chr2:g.189899892A>G (hg19) ; chr2:g.189035166A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035166A>G , CM000664.2:g.189035166A>G	GRCh38
NC_000002.11:g.189899892A>G , CM000664.1:g.189899892A>G	GRCh37
NC_000002.10:g.189608137A>G	NCBI36
NG_011799.1:g.149714T>C
NG_011799.2:g.149714T>C
NG_011799.3:g.195136T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4114-11T>C MANE Select	ENSP00000364000.3:n.4114-11T>C
ENST00000374866.7:c.4114-11T>C	ENSP00000364000.3:n.4114-11T>C
ENST00000618828.1:c.2953-11T>C	ENSP00000482184.1:n.2953-11T>C
NM_000393.3:c.4114-11T>C	NP_000384.2:n.4114-11T>C
XM_011510573.1:c.3976-11T>C	XP_011508875.1:n.3976-11T>C
NM_000393.4:c.4114-11T>C	NP_000384.2:n.4114-11T>C
XM_011510573.3:c.3976-11T>C	XP_011508875.1:n.3976-11T>C
NM_000393.5:c.4114-11T>C MANE Select	NP_000384.2:n.4114-11T>C