Canonical Allele Identifier: CA2683772185
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94423272-A-AG
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423276dup , CM000669.2:g.94423276dup GRCh38
NC_000007.13:g.94052588dup , CM000669.1:g.94052588dup GRCh37
NC_000007.12:g.93890524dup NCBI36
NG_007405.1:g.33716dup , LRG_2:g.33716dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+158dup MANE Select ENSP00000297268.6:n.2565+158dup
ENST00000297268.10:c.2565+158dup ENSP00000297268.6:n.2565+158dup
ENST00000481570.5:n.806dup
ENST00000620463.1:c.2559+158dup ENSP00000477719.1:n.2559+158dup
NM_000089.3:c.2565+158dup , LRG_2t1:c.2565+158dup NP_000080.2:n.2565+158dup
NM_000089.4:c.2565+158dup MANE Select NP_000080.2:n.2565+158dup
Search 100 bp 5'
Search 100 bp 3'