Canonical Allele Identifier: CA2662317865

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050813-A-AATT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050813_189050814insATT , CM000664.2:g.189050813_189050814insATT	GRCh38
NC_000002.11:g.189915539_189915540insATT , CM000664.1:g.189915539_189915540insATT	GRCh37
NC_000002.10:g.189623784_189623785insATT	NCBI36
NG_011799.1:g.134066_134067insAAT
NG_011799.2:g.134066_134067insAAT
NG_011799.3:g.179488_179489insAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2932-138_2932-137insAAT MANE Select	ENSP00000364000.3:n.2932-138_2932-137insAAT
ENST00000374866.7:c.2932-138_2932-137insAAT	ENSP00000364000.3:n.2932-138_2932-137insAAT
ENST00000618828.1:c.1771-138_1771-137insAAT	ENSP00000482184.1:n.1771-138_1771-137insAAT
NM_000393.3:c.2932-138_2932-137insAAT	NP_000384.2:n.2932-138_2932-137insAAT
XM_011510573.1:c.2794-138_2794-137insAAT	XP_011508875.1:n.2794-138_2794-137insAAT
NM_000393.4:c.2932-138_2932-137insAAT	NP_000384.2:n.2932-138_2932-137insAAT
XM_011510573.3:c.2794-138_2794-137insAAT	XP_011508875.1:n.2794-138_2794-137insAAT
NM_000393.5:c.2932-138_2932-137insAAT MANE Select	NP_000384.2:n.2932-138_2932-137insAAT