Canonical Allele Identifier: CA1040409715

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685969360
• gnomAD v3: 2-189059298-TC-T
• gnomAD v4: 2-189059298-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189059300del , CM000664.2:g.189059300del	GRCh38
NC_000002.11:g.189924026del , CM000664.1:g.189924026del	GRCh37
NC_000002.10:g.189632271del	NCBI36
NG_011799.1:g.125581del
NG_011799.2:g.125581del
NG_011799.3:g.171003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-406del MANE Select	ENSP00000364000.3:n.2086-406del
ENST00000374866.7:c.2086-406del	ENSP00000364000.3:n.2086-406del
ENST00000470524.2:n.192-406del
ENST00000618828.1:c.925-406del	ENSP00000482184.1:n.925-406del
NM_000393.3:c.2086-406del	NP_000384.2:n.2086-406del
XM_011510573.1:c.1948-406del	XP_011508875.1:n.1948-406del
NM_000393.4:c.2086-406del	NP_000384.2:n.2086-406del
XM_011510573.3:c.1948-406del	XP_011508875.1:n.1948-406del
NM_000393.5:c.2086-406del MANE Select	NP_000384.2:n.2086-406del