Canonical Allele Identifier: CA349863960

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 577525
• ClinVar RCV Id: RCV002232899
• dbSNP Id: rs1064795177
• gnomAD v4: 2-189098750-T-G
• MyVariant Identifiers: chr2:g.189963476T>G (hg19) ; chr2:g.189098750T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098750T>G , CM000664.2:g.189098750T>G	GRCh38
NC_000002.11:g.189963476T>G , CM000664.1:g.189963476T>G	GRCh37
NC_000002.10:g.189671721T>G	NCBI36
NG_011799.1:g.86130A>C
NG_011799.2:g.86130A>C
NG_011799.3:g.131552A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.379A>C MANE Select	ENSP00000364000.3:p.Ile127Leu
ENST00000649966.1:c.241A>C	ENSP00000496785.1:p.Ile81Leu
ENST00000374866.7:c.379A>C	ENSP00000364000.3:p.Ile127Leu
ENST00000618828.1:c.-252A>C	ENSP00000482184.1:n.-252A>C
NM_000393.3:c.379A>C	NP_000384.2:p.Ile127Leu
XM_011510573.1:c.241A>C	XP_011508875.1:p.Ile81Leu
NM_000393.4:c.379A>C	NP_000384.2:p.Ile127Leu
XM_011510573.3:c.241A>C	XP_011508875.1:p.Ile81Leu
NM_000393.5:c.379A>C MANE Select	NP_000384.2:p.Ile127Leu