Canonical Allele Identifier: CA12475845
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1260034
ClinVar RCV Id: RCV001666951
dbSNP Id: rs62464629
gnomAD v2: 7-94052603-A-G
gnomAD v3: 7-94423291-A-G
gnomAD v4: 7-94423291-A-G
MyVariant Identifiers: chr7:g.94052603A>G (hg19) chr7:g.94423291A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423291A>G , CM000669.2:g.94423291A>G GRCh38
NC_000007.13:g.94052603A>G , CM000669.1:g.94052603A>G GRCh37
NC_000007.12:g.93890539A>G NCBI36
NG_007405.1:g.33731A>G , LRG_2:g.33731A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+173A>G MANE Select ENSP00000297268.6:n.2565+173A>G
ENST00000297268.10:c.2565+173A>G ENSP00000297268.6:n.2565+173A>G
ENST00000481570.5:n.821A>G
ENST00000620463.1:c.2559+173A>G ENSP00000477719.1:n.2559+173A>G
NM_000089.3:c.2565+173A>G , LRG_2t1:c.2565+173A>G NP_000080.2:n.2565+173A>G
NM_000089.4:c.2565+173A>G MANE Select NP_000080.2:n.2565+173A>G
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