Canonical Allele Identifier: CA2022155

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 377736
• ClinVar RCV Id: RCV001143724 ; RCV001712190 ; RCV002436245 ; RCV003972572 ; RCV002278656 ; RCV002229997
• dbSNP Id: rs760946138
• ExAC: 2:189916082 T / C
• gnomAD v2: 2-189916082-T-C
• gnomAD v3: 2-189051356-T-C
• gnomAD v4: 2-189051356-T-C
• COSMIC: COSM4630689
• MyVariant Identifiers: chr2:g.189916082T>C (hg19) ; chr2:g.189051356T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189051356T>C , CM000664.2:g.189051356T>C	GRCh38
NC_000002.11:g.189916082T>C , CM000664.1:g.189916082T>C	GRCh37
NC_000002.10:g.189624327T>C	NCBI36
NG_011799.1:g.133524A>G
NG_011799.2:g.133524A>G
NG_011799.3:g.178946A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2895A>G MANE Select	ENSP00000364000.3:p.Pro965=
ENST00000374866.7:c.2895A>G	ENSP00000364000.3:p.Pro965=
ENST00000618828.1:c.1734A>G	ENSP00000482184.1:p.Pro578=
NM_000393.3:c.2895A>G	NP_000384.2:p.Pro965=
XM_011510573.1:c.2757A>G	XP_011508875.1:p.Pro919=
NM_000393.4:c.2895A>G	NP_000384.2:p.Pro965=
XM_011510573.3:c.2757A>G	XP_011508875.1:p.Pro919=
NM_000393.5:c.2895A>G MANE Select	NP_000384.2:p.Pro965=