Canonical Allele Identifier: CA290416

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 136968
• ClinVar RCV Id: RCV000124527 ; RCV000586608 ; RCV000659469 ; RCV001000192 ; RCV002055506
• dbSNP Id: rs148220961
• ExAC: 2:189963501 G / A
• gnomAD v2: 2-189963501-G-A
• gnomAD v3: 2-189098775-G-A
• gnomAD v4: 2-189098775-G-A
• MyVariant Identifiers: chr2:g.189963501G>A (hg19) ; chr2:g.189098775G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098775G>A , CM000664.2:g.189098775G>A	GRCh38
NC_000002.11:g.189963501G>A , CM000664.1:g.189963501G>A	GRCh37
NC_000002.10:g.189671746G>A	NCBI36
NG_011799.1:g.86105C>T
NG_011799.2:g.86105C>T
NG_011799.3:g.131527C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.370-16C>T MANE Select	ENSP00000364000.3:n.370-16C>T
ENST00000649966.1:c.232-16C>T	ENSP00000496785.1:n.232-16C>T
ENST00000374866.7:c.370-16C>T	ENSP00000364000.3:n.370-16C>T
ENST00000618828.1:c.-261-16C>T	ENSP00000482184.1:n.-261-16C>T
NM_000393.3:c.370-16C>T	NP_000384.2:n.370-16C>T
XM_011510573.1:c.232-16C>T	XP_011508875.1:n.232-16C>T
NM_000393.4:c.370-16C>T	NP_000384.2:n.370-16C>T
XM_011510573.3:c.232-16C>T	XP_011508875.1:n.232-16C>T
NM_000393.5:c.370-16C>T MANE Select	NP_000384.2:n.370-16C>T