Canonical Allele Identifier: CA322000

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 213114
• ClinVar RCV Id: RCV000197533 ; RCV000294359 ; RCV002229091 ; RCV001197291 ; RCV002315571
• dbSNP Id: rs374549843
• ExAC: 2:189912958 G / A
• gnomAD v2: 2-189912958-G-A
• gnomAD v3: 2-189048232-G-A
• gnomAD v4: 2-189048232-G-A
• MyVariant Identifiers: chr2:g.189912958G>A (hg19) ; chr2:g.189048232G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189048232G>A , CM000664.2:g.189048232G>A	GRCh38
NC_000002.11:g.189912958G>A , CM000664.1:g.189912958G>A	GRCh37
NC_000002.10:g.189621203G>A	NCBI36
NG_011799.1:g.136648C>T
NG_011799.2:g.136648C>T
NG_011799.3:g.182070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3178C>T MANE Select	ENSP00000364000.3:p.Arg1060Trp
ENST00000374866.7:c.3178C>T	ENSP00000364000.3:p.Arg1060Trp
ENST00000618828.1:c.2017C>T	ENSP00000482184.1:p.Arg673Trp
NM_000393.3:c.3178C>T	NP_000384.2:p.Arg1060Trp
XM_011510573.1:c.3040C>T	XP_011508875.1:p.Arg1014Trp
NM_000393.4:c.3178C>T	NP_000384.2:p.Arg1060Trp
XM_011510573.3:c.3040C>T	XP_011508875.1:p.Arg1014Trp
NM_000393.5:c.3178C>T MANE Select	NP_000384.2:p.Arg1060Trp