Canonical Allele Identifier: CA576321776
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1366361513
gnomAD v2: 7-94038588-T-C
gnomAD v4: 7-94409276-T-C
COSMIC: COSN23446137
MyVariant Identifiers: chr7:g.94038588T>C (hg19) chr7:g.94409276T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94409276T>C , CM000669.2:g.94409276T>C GRCh38
NC_000007.13:g.94038588T>C , CM000669.1:g.94038588T>C GRCh37
NC_000007.12:g.93876524T>C NCBI36
NG_007405.1:g.19716T>C , LRG_2:g.19716T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.793-46T>C MANE Select ENSP00000297268.6:n.793-46T>C
ENST00000297268.10:c.793-46T>C ENSP00000297268.6:n.793-46T>C
ENST00000620463.1:c.787-46T>C ENSP00000477719.1:n.787-46T>C
NM_000089.3:c.793-46T>C , LRG_2t1:c.793-46T>C NP_000080.2:n.793-46T>C
NM_000089.4:c.793-46T>C MANE Select NP_000080.2:n.793-46T>C
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