Canonical Allele Identifier: CA844001296
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1191437341
gnomAD v3: 7-94423222-G-T
gnomAD v4: 7-94423222-G-T
MyVariant Identifiers: chr7:g.94052534G>T (hg19) chr7:g.94423222G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423222G>T , CM000669.2:g.94423222G>T GRCh38
NC_000007.13:g.94052534G>T , CM000669.1:g.94052534G>T GRCh37
NC_000007.12:g.93890470G>T NCBI36
NG_007405.1:g.33662G>T , LRG_2:g.33662G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+104G>T MANE Select ENSP00000297268.6:n.2565+104G>T
ENST00000297268.10:c.2565+104G>T ENSP00000297268.6:n.2565+104G>T
ENST00000481570.5:n.752G>T
ENST00000620463.1:c.2559+104G>T ENSP00000477719.1:n.2559+104G>T
NM_000089.3:c.2565+104G>T , LRG_2t1:c.2565+104G>T NP_000080.2:n.2565+104G>T
NM_000089.4:c.2565+104G>T MANE Select NP_000080.2:n.2565+104G>T
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