Canonical Allele Identifier: CA1315424902
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1685757957
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050336C>T , CM000664.2:g.189050336C>T GRCh38
NC_000002.11:g.189915062C>T , CM000664.1:g.189915062C>T GRCh37
NC_000002.10:g.189623307C>T NCBI36
NG_011799.1:g.134544G>A
NG_011799.2:g.134544G>A
NG_011799.3:g.179966G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3039+233G>A MANE Select ENSP00000364000.3:n.3039+233G>A
ENST00000374866.7:c.3039+233G>A ENSP00000364000.3:n.3039+233G>A
ENST00000618828.1:c.1878+233G>A ENSP00000482184.1:n.1878+233G>A
NM_000393.3:c.3039+233G>A NP_000384.2:n.3039+233G>A
XM_011510573.1:c.2901+233G>A XP_011508875.1:n.2901+233G>A
NM_000393.4:c.3039+233G>A NP_000384.2:n.3039+233G>A
XM_011510573.3:c.2901+233G>A XP_011508875.1:n.2901+233G>A
NM_000393.5:c.3039+233G>A MANE Select NP_000384.2:n.3039+233G>A
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