Canonical Allele Identifier: CA2662317022
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189043241-A-AACC
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189043241_189043242insACC , CM000664.2:g.189043241_189043242insACC GRCh38
NC_000002.11:g.189907967_189907968insACC , CM000664.1:g.189907967_189907968insACC GRCh37
NC_000002.10:g.189616212_189616213insACC NCBI36
NG_011799.1:g.141638_141639insGGT
NG_011799.2:g.141638_141639insGGT
NG_011799.3:g.187060_187061insGGT

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.3380_3381insGGT MANE Select ENSP00000364000.3:p.Arg1127_Gly1128insVal
ENST00000374866.7:c.3380_3381insGGT ENSP00000364000.3:p.Arg1127_Gly1128insVal
ENST00000618828.1:c.2219_2220insGGT ENSP00000482184.1:p.Arg740_Gly741insVal
NM_000393.3:c.3380_3381insGGT NP_000384.2:p.Arg1127_Gly1128insVal
XM_011510573.1:c.3242_3243insGGT XP_011508875.1:p.Arg1081_Gly1082insVal
NM_000393.4:c.3380_3381insGGT NP_000384.2:p.Arg1127_Gly1128insVal
XM_011510573.3:c.3242_3243insGGT XP_011508875.1:p.Arg1081_Gly1082insVal
NM_000393.5:c.3380_3381insGGT MANE Select NP_000384.2:p.Arg1127_Gly1128insVal
Search 100 bp 5'
Search 100 bp 3'