Canonical Allele Identifier: CA2021999

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 426754
• ClinVar RCV Id: RCV000489051 ; RCV000714907 ; RCV002231125 ; RCV002279262
• dbSNP Id: rs144890303
• ExAC: 2:189907926 T / G
• gnomAD v2: 2-189907926-T-G
• gnomAD v3: 2-189043200-T-G
• gnomAD v4: 2-189043200-T-G
• MyVariant Identifiers: chr2:g.189907926T>G (hg19) ; chr2:g.189043200T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189043200T>G , CM000664.2:g.189043200T>G	GRCh38
NC_000002.11:g.189907926T>G , CM000664.1:g.189907926T>G	GRCh37
NC_000002.10:g.189616171T>G	NCBI36
NG_011799.1:g.141680A>C
NG_011799.2:g.141680A>C
NG_011799.3:g.187102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3422A>C MANE Select	ENSP00000364000.3:p.Gln1141Pro
ENST00000374866.7:c.3422A>C	ENSP00000364000.3:p.Gln1141Pro
ENST00000618828.1:c.2261A>C	ENSP00000482184.1:p.Gln754Pro
NM_000393.3:c.3422A>C	NP_000384.2:p.Gln1141Pro
XM_011510573.1:c.3284A>C	XP_011508875.1:p.Gln1095Pro
NM_000393.4:c.3422A>C	NP_000384.2:p.Gln1141Pro
XM_011510573.3:c.3284A>C	XP_011508875.1:p.Gln1095Pro
NM_000393.5:c.3422A>C MANE Select	NP_000384.2:p.Gln1141Pro