Canonical Allele Identifier: CA349876419

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189923616C>G (hg19) ; chr2:g.189058890C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058890C>G , CM000664.2:g.189058890C>G	GRCh38
NC_000002.11:g.189923616C>G , CM000664.1:g.189923616C>G	GRCh37
NC_000002.10:g.189631861C>G	NCBI36
NG_011799.1:g.125990G>C
NG_011799.2:g.125990G>C
NG_011799.3:g.171412G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2089G>C MANE Select	ENSP00000364000.3:p.Val697Leu
ENST00000374866.7:c.2089G>C	ENSP00000364000.3:p.Val697Leu
ENST00000470524.2:n.195G>C
ENST00000618828.1:c.928G>C	ENSP00000482184.1:p.Val310Leu
NM_000393.3:c.2089G>C	NP_000384.2:p.Val697Leu
XM_011510573.1:c.1951G>C	XP_011508875.1:p.Val651Leu
NM_000393.4:c.2089G>C	NP_000384.2:p.Val697Leu
XM_011510573.3:c.1951G>C	XP_011508875.1:p.Val651Leu
NM_000393.5:c.2089G>C MANE Select	NP_000384.2:p.Val697Leu