Canonical Allele Identifier: CA320909
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213116
ClinVar RCV Id: RCV002229092 RCV002271453 RCV003144157
dbSNP Id: rs150401168
ExAC: 2:189910527 G / A
gnomAD v2: 2-189910527-G-A
gnomAD v3: 2-189045801-G-A
gnomAD v4: 2-189045801-G-A
MyVariant Identifiers: chr2:g.189910527G>A (hg19) chr2:g.189045801G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189045801G>A , CM000664.2:g.189045801G>A GRCh38
NC_000002.11:g.189910527G>A , CM000664.1:g.189910527G>A GRCh37
NC_000002.10:g.189618772G>A NCBI36
NG_011799.1:g.139079C>T
NG_011799.2:g.139079C>T
NG_011799.3:g.184501C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.3308C>T MANE Select ENSP00000364000.3:p.Pro1103Leu
ENST00000374866.7:c.3308C>T ENSP00000364000.3:p.Pro1103Leu
ENST00000618828.1:c.2147C>T ENSP00000482184.1:p.Pro716Leu
NM_000393.3:c.3308C>T NP_000384.2:p.Pro1103Leu
XM_011510573.1:c.3170C>T XP_011508875.1:p.Pro1057Leu
NM_000393.4:c.3308C>T NP_000384.2:p.Pro1103Leu
XM_011510573.3:c.3170C>T XP_011508875.1:p.Pro1057Leu
NM_000393.5:c.3308C>T MANE Select NP_000384.2:p.Pro1103Leu
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