Canonical Allele Identifier: CA2577186483
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058951A>G , CM000664.2:g.189058951A>G GRCh38
NC_000002.11:g.189923677A>G , CM000664.1:g.189923677A>G GRCh37
NC_000002.10:g.189631922A>G NCBI36
NG_011799.1:g.125929T>C
NG_011799.2:g.125929T>C
NG_011799.3:g.171351T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2086-58T>C MANE Select ENSP00000364000.3:n.2086-58T>C
ENST00000374866.7:c.2086-58T>C ENSP00000364000.3:n.2086-58T>C
ENST00000470524.2:n.192-58T>C
ENST00000618828.1:c.925-58T>C ENSP00000482184.1:n.925-58T>C
NM_000393.3:c.2086-58T>C NP_000384.2:n.2086-58T>C
XM_011510573.1:c.1948-58T>C XP_011508875.1:n.1948-58T>C
NM_000393.4:c.2086-58T>C NP_000384.2:n.2086-58T>C
XM_011510573.3:c.1948-58T>C XP_011508875.1:n.1948-58T>C
NM_000393.5:c.2086-58T>C MANE Select NP_000384.2:n.2086-58T>C