Canonical Allele Identifier: CA2022440

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 459732
• ClinVar RCV Id: RCV001354120 ; RCV002231700 ; RCV000582800 ; RCV002420392
• dbSNP Id: rs146175905
• ExAC: 2:189923588 G / A
• gnomAD v2: 2-189923588-G-A
• gnomAD v3: 2-189058862-G-A
• gnomAD v4: 2-189058862-G-A
• MyVariant Identifiers: chr2:g.189923588G>A (hg19) ; chr2:g.189058862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058862G>A , CM000664.2:g.189058862G>A	GRCh38
NC_000002.11:g.189923588G>A , CM000664.1:g.189923588G>A	GRCh37
NC_000002.10:g.189631833G>A	NCBI36
NG_011799.1:g.126018C>T
NG_011799.2:g.126018C>T
NG_011799.3:g.171440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2117C>T MANE Select	ENSP00000364000.3:p.Pro706Leu
ENST00000374866.7:c.2117C>T	ENSP00000364000.3:p.Pro706Leu
ENST00000470524.2:n.223C>T
ENST00000618828.1:c.956C>T	ENSP00000482184.1:p.Pro319Leu
NM_000393.3:c.2117C>T	NP_000384.2:p.Pro706Leu
XM_011510573.1:c.1979C>T	XP_011508875.1:p.Pro660Leu
NM_000393.4:c.2117C>T	NP_000384.2:p.Pro706Leu
XM_011510573.3:c.1979C>T	XP_011508875.1:p.Pro660Leu
NM_000393.5:c.2117C>T MANE Select	NP_000384.2:p.Pro706Leu