Canonical Allele Identifier: CA2022257

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 1384618
• ClinVar RCV Id: RCV001897721
• dbSNP Id: rs754389345
• ExAC: 2:189917675 G / A
• gnomAD v2: 2-189917675-G-A
• gnomAD v3: 2-189052949-G-A
• gnomAD v4: 2-189052949-G-A
• MyVariant Identifiers: chr2:g.189917675G>A (hg19) ; chr2:g.189052949G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189052949G>A , CM000664.2:g.189052949G>A	GRCh38
NC_000002.11:g.189917675G>A , CM000664.1:g.189917675G>A	GRCh37
NC_000002.10:g.189625920G>A	NCBI36
NG_011799.1:g.131931C>T
NG_011799.2:g.131931C>T
NG_011799.3:g.177353C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.2623C>T MANE Select	ENSP00000364000.3:p.Pro875Ser
ENST00000374866.7:c.2623C>T	ENSP00000364000.3:p.Pro875Ser
ENST00000618828.1:c.1462C>T	ENSP00000482184.1:p.Pro488Ser
NM_000393.3:c.2623C>T	NP_000384.2:p.Pro875Ser
XM_011510573.1:c.2485C>T	XP_011508875.1:p.Pro829Ser
NM_000393.4:c.2623C>T	NP_000384.2:p.Pro875Ser
XM_011510573.3:c.2485C>T	XP_011508875.1:p.Pro829Ser
NM_000393.5:c.2623C>T MANE Select	NP_000384.2:p.Pro875Ser