Canonical Allele Identifier: CA349854970

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189899733T>A (hg19) ; chr2:g.189035007T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035007T>A , CM000664.2:g.189035007T>A	GRCh38
NC_000002.11:g.189899733T>A , CM000664.1:g.189899733T>A	GRCh37
NC_000002.10:g.189607978T>A	NCBI36
NG_011799.1:g.149873A>T
NG_011799.2:g.149873A>T
NG_011799.3:g.195295A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.4262A>T MANE Select	ENSP00000364000.3:p.Lys1421Ile
ENST00000374866.7:c.4262A>T	ENSP00000364000.3:p.Lys1421Ile
ENST00000618828.1:c.3101A>T	ENSP00000482184.1:p.Lys1034Ile
NM_000393.3:c.4262A>T	NP_000384.2:p.Lys1421Ile
XM_011510573.1:c.4124A>T	XP_011508875.1:p.Lys1375Ile
NM_000393.4:c.4262A>T	NP_000384.2:p.Lys1421Ile
XM_011510573.3:c.4124A>T	XP_011508875.1:p.Lys1375Ile
NM_000393.5:c.4262A>T MANE Select	NP_000384.2:p.Lys1421Ile