Canonical Allele Identifier: CA4347291
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94419559T>C
GRCh37 chr7:g.94048871T>C
gnomAD v2:
7:94048871 T / C
gnomAD v3:
7:94419559 T / C
gnomAD v4:
chr7-94419559-T-C
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV000595763
RCV003767402
ClinVar Variation:
501871
dbSNP:
745913455
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94419559T>C , CM000669.2:g.94419559T>C GRCh38
NC_000007.13:g.94048871T>C , CM000669.1:g.94048871T>C GRCh37
NC_000007.12:g.93886807T>C NCBI36
NG_007405.1:g.29999T>C , LRG_2:g.29999T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2079+8T>C MANE Select ENSP00000297268.6:n.2079+8T>C
ENST00000297268.10:c.2079+8T>C ENSP00000297268.6:n.2079+8T>C
ENST00000461525.5:n.168+8T>C
ENST00000467931.1:n.99+8T>C
ENST00000473573.5:n.416+8T>C
ENST00000497316.5:n.476+8T>C
ENST00000620463.1:c.2073+8T>C ENSP00000477719.1:n.2073+8T>C
NM_000089.3:c.2079+8T>C , LRG_2t1:c.2079+8T>C NP_000080.2:n.2079+8T>C
NM_000089.4:c.2079+8T>C MANE Select NP_000080.2:n.2079+8T>C
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