Canonical Allele Identifier: CA2662314159

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189058904-A-ATTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058912_189058916dup , CM000664.2:g.189058912_189058916dup	GRCh38
NC_000002.11:g.189923638_189923642dup , CM000664.1:g.189923638_189923642dup	GRCh37
NC_000002.10:g.189631883_189631887dup	NCBI36
NG_011799.1:g.125971_125975dup
NG_011799.2:g.125971_125975dup
NG_011799.3:g.171393_171397dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-16_2086-12dup MANE Select	ENSP00000364000.3:n.2086-16_2086-12dup
ENST00000374866.7:c.2086-16_2086-12dup	ENSP00000364000.3:n.2086-16_2086-12dup
ENST00000470524.2:n.192-16_192-12dup
ENST00000618828.1:c.925-16_925-12dup	ENSP00000482184.1:n.925-16_925-12dup
NM_000393.3:c.2086-16_2086-12dup	NP_000384.2:n.2086-16_2086-12dup
XM_011510573.1:c.1948-16_1948-12dup	XP_011508875.1:n.1948-16_1948-12dup
NM_000393.4:c.2086-16_2086-12dup	NP_000384.2:n.2086-16_2086-12dup
XM_011510573.3:c.1948-16_1948-12dup	XP_011508875.1:n.1948-16_1948-12dup
NM_000393.5:c.2086-16_2086-12dup MANE Select	NP_000384.2:n.2086-16_2086-12dup