Canonical Allele Identifier: CA843996782
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1223496516
gnomAD v3: 7-94401305-G-C
gnomAD v4: 7-94401305-G-C
MyVariant Identifiers: chr7:g.94030617G>C (hg19) chr7:g.94401305G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401305G>C , CM000669.2:g.94401305G>C GRCh38
NC_000007.13:g.94030617G>C , CM000669.1:g.94030617G>C GRCh37
NC_000007.12:g.93868553G>C NCBI36
NG_007405.1:g.11745G>C , LRG_2:g.11745G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-262G>C MANE Select ENSP00000297268.6:n.226-262G>C
ENST00000297268.10:c.226-262G>C ENSP00000297268.6:n.226-262G>C
ENST00000620463.1:c.220-262G>C ENSP00000477719.1:n.220-262G>C
NM_000089.3:c.226-262G>C , LRG_2t1:c.226-262G>C NP_000080.2:n.226-262G>C
NM_000089.4:c.226-262G>C MANE Select NP_000080.2:n.226-262G>C
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