Canonical Allele Identifier: CA1315425019

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050588_189050590delinsGGC , CM000664.2:g.189050588_189050590delinsGGC	GRCh38
NC_000002.11:g.189915314_189915316delinsGGC , CM000664.1:g.189915314_189915316delinsGGC	GRCh37
NC_000002.10:g.189623559_189623561delinsGGC	NCBI36
NG_011799.1:g.134290_134292delinsGCC
NG_011799.2:g.134290_134292delinsGCC
NG_011799.3:g.179712_179714delinsGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3018_3020delinsGCC MANE Select	ENSP00000364000.3:p.Met1006=
ENST00000374866.7:c.3018_3020delinsGCC	ENSP00000364000.3:p.Met1006=
ENST00000618828.1:c.1857_1859delinsGCC	ENSP00000482184.1:p.Met619=
NM_000393.3:c.3018_3020delinsGCC	NP_000384.2:p.Met1006=
XM_011510573.1:c.2880_2882delinsGCC	XP_011508875.1:p.Met960=
NM_000393.4:c.3018_3020delinsGCC	NP_000384.2:p.Met1006=
XM_011510573.3:c.2880_2882delinsGCC	XP_011508875.1:p.Met960=
NM_000393.5:c.3018_3020delinsGCC MANE Select	NP_000384.2:p.Met1006=