Canonical Allele Identifier: CA62594804
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs929745619
MyVariant Identifiers: chr2:g.189914980A>C (hg19) chr2:g.189050254A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050254A>C , CM000664.2:g.189050254A>C GRCh38
NC_000002.11:g.189914980A>C , CM000664.1:g.189914980A>C GRCh37
NC_000002.10:g.189623225A>C NCBI36
NG_011799.1:g.134626T>G
NG_011799.2:g.134626T>G
NG_011799.3:g.180048T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3039+315T>G MANE Select ENSP00000364000.3:n.3039+315T>G
ENST00000374866.7:c.3039+315T>G ENSP00000364000.3:n.3039+315T>G
ENST00000618828.1:c.1878+315T>G ENSP00000482184.1:n.1878+315T>G
NM_000393.3:c.3039+315T>G NP_000384.2:n.3039+315T>G
XM_011510573.1:c.2901+315T>G XP_011508875.1:n.2901+315T>G
NM_000393.4:c.3039+315T>G NP_000384.2:n.3039+315T>G
XM_011510573.3:c.2901+315T>G XP_011508875.1:n.2901+315T>G
NM_000393.5:c.3039+315T>G MANE Select NP_000384.2:n.3039+315T>G
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