Canonical Allele Identifier: CA1315428568
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1685962427

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058933T>A , CM000664.2:g.189058933T>A GRCh38
NC_000002.11:g.189923659T>A , CM000664.1:g.189923659T>A GRCh37
NC_000002.10:g.189631904T>A NCBI36
NG_011799.1:g.125947A>T
NG_011799.2:g.125947A>T
NG_011799.3:g.171369A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2086-40A>T MANE Select ENSP00000364000.3:n.2086-40A>T
ENST00000374866.7:c.2086-40A>T ENSP00000364000.3:n.2086-40A>T
ENST00000470524.2:n.192-40A>T
ENST00000618828.1:c.925-40A>T ENSP00000482184.1:n.925-40A>T
NM_000393.3:c.2086-40A>T NP_000384.2:n.2086-40A>T
XM_011510573.1:c.1948-40A>T XP_011508875.1:n.1948-40A>T
NM_000393.4:c.2086-40A>T NP_000384.2:n.2086-40A>T
XM_011510573.3:c.1948-40A>T XP_011508875.1:n.1948-40A>T
NM_000393.5:c.2086-40A>T MANE Select NP_000384.2:n.2086-40A>T