Canonical Allele Identifier: CA349861062

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189907968C>A (hg19) ; chr2:g.189043242C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189043242C>A , CM000664.2:g.189043242C>A	GRCh38
NC_000002.11:g.189907968C>A , CM000664.1:g.189907968C>A	GRCh37
NC_000002.10:g.189616213C>A	NCBI36
NG_011799.1:g.141638G>T
NG_011799.2:g.141638G>T
NG_011799.3:g.187060G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3380G>T MANE Select	ENSP00000364000.3:p.Arg1127Leu
ENST00000374866.7:c.3380G>T	ENSP00000364000.3:p.Arg1127Leu
ENST00000618828.1:c.2219G>T	ENSP00000482184.1:p.Arg740Leu
NM_000393.3:c.3380G>T	NP_000384.2:p.Arg1127Leu
XM_011510573.1:c.3242G>T	XP_011508875.1:p.Arg1081Leu
NM_000393.4:c.3380G>T	NP_000384.2:p.Arg1127Leu
XM_011510573.3:c.3242G>T	XP_011508875.1:p.Arg1081Leu
NM_000393.5:c.3380G>T MANE Select	NP_000384.2:p.Arg1127Leu