Canonical Allele Identifier: CA2701312917
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs2153507384
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189045921C>T , CM000664.2:g.189045921C>T GRCh38
NC_000002.11:g.189910647C>T , CM000664.1:g.189910647C>T GRCh37
NC_000002.10:g.189618892C>T NCBI36
NG_011799.1:g.138959G>A
NG_011799.2:g.138959G>A
NG_011799.3:g.184381G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.3202-14G>A MANE Select ENSP00000364000.3:n.3202-14G>A
ENST00000374866.7:c.3202-14G>A ENSP00000364000.3:n.3202-14G>A
ENST00000618828.1:c.2041-14G>A ENSP00000482184.1:n.2041-14G>A
NM_000393.3:c.3202-14G>A NP_000384.2:n.3202-14G>A
XM_011510573.1:c.3064-14G>A XP_011508875.1:n.3064-14G>A
NM_000393.4:c.3202-14G>A NP_000384.2:n.3202-14G>A
XM_011510573.3:c.3064-14G>A XP_011508875.1:n.3064-14G>A
NM_000393.5:c.3202-14G>A MANE Select NP_000384.2:n.3202-14G>A
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