Canonical Allele Identifier: CA349863951

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189963475A>G (hg19) ; chr2:g.189098749A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098749A>G , CM000664.2:g.189098749A>G	GRCh38
NC_000002.11:g.189963475A>G , CM000664.1:g.189963475A>G	GRCh37
NC_000002.10:g.189671720A>G	NCBI36
NG_011799.1:g.86131T>C
NG_011799.2:g.86131T>C
NG_011799.3:g.131553T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.380T>C MANE Select	ENSP00000364000.3:p.Ile127Thr
ENST00000649966.1:c.242T>C	ENSP00000496785.1:p.Ile81Thr
ENST00000374866.7:c.380T>C	ENSP00000364000.3:p.Ile127Thr
ENST00000618828.1:c.-251T>C	ENSP00000482184.1:n.-251T>C
NM_000393.3:c.380T>C	NP_000384.2:p.Ile127Thr
XM_011510573.1:c.242T>C	XP_011508875.1:p.Ile81Thr
NM_000393.4:c.380T>C	NP_000384.2:p.Ile127Thr
XM_011510573.3:c.242T>C	XP_011508875.1:p.Ile81Thr
NM_000393.5:c.380T>C MANE Select	NP_000384.2:p.Ile127Thr