Canonical Allele Identifier: CA324357

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 213152
• ClinVar RCV Id: RCV001705104 ; RCV002433876 ; RCV003330562 ; RCV002229101
• dbSNP Id: rs141644853
• ExAC: 2:189915387 G / A
• gnomAD v2: 2-189915387-G-A
• gnomAD v3: 2-189050661-G-A
• gnomAD v4: 2-189050661-G-A
• MyVariant Identifiers: chr2:g.189915387G>A (hg19) ; chr2:g.189050661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050661G>A , CM000664.2:g.189050661G>A	GRCh38
NC_000002.11:g.189915387G>A , CM000664.1:g.189915387G>A	GRCh37
NC_000002.10:g.189623632G>A	NCBI36
NG_011799.1:g.134219C>T
NG_011799.2:g.134219C>T
NG_011799.3:g.179641C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2947C>T MANE Select	ENSP00000364000.3:p.Pro983Ser
ENST00000374866.7:c.2947C>T	ENSP00000364000.3:p.Pro983Ser
ENST00000618828.1:c.1786C>T	ENSP00000482184.1:p.Pro596Ser
NM_000393.3:c.2947C>T	NP_000384.2:p.Pro983Ser
XM_011510573.1:c.2809C>T	XP_011508875.1:p.Pro937Ser
NM_000393.4:c.2947C>T	NP_000384.2:p.Pro983Ser
XM_011510573.3:c.2809C>T	XP_011508875.1:p.Pro937Ser
NM_000393.5:c.2947C>T MANE Select	NP_000384.2:p.Pro983Ser