Canonical Allele Identifier: CA162938130
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs368054339
gnomAD v3: 7-94423173-C-T
gnomAD v4: 7-94423173-C-T
MyVariant Identifiers: chr7:g.94052485C>T (hg19) chr7:g.94423173C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423173C>T , CM000669.2:g.94423173C>T GRCh38
NC_000007.13:g.94052485C>T , CM000669.1:g.94052485C>T GRCh37
NC_000007.12:g.93890421C>T NCBI36
NG_007405.1:g.33613C>T , LRG_2:g.33613C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+55C>T MANE Select ENSP00000297268.6:n.2565+55C>T
ENST00000297268.10:c.2565+55C>T ENSP00000297268.6:n.2565+55C>T
ENST00000481570.5:n.703C>T
ENST00000620463.1:c.2559+55C>T ENSP00000477719.1:n.2559+55C>T
NM_000089.3:c.2565+55C>T , LRG_2t1:c.2565+55C>T NP_000080.2:n.2565+55C>T
NM_000089.4:c.2565+55C>T MANE Select NP_000080.2:n.2565+55C>T
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