Canonical Allele Identifier: CA260340
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94411165A>T
GRCh37 chr7:g.94040477A>T
gnomAD v2:
7:94040477 A / T
gnomAD v3:
7:94411165 A / T
gnomAD v4:
chr7-94411165-A-T
Joint Max Group AF 0.00419974 (AFR)
Genomes Max Group AF 0.00339193 (AFR)
Exomes Max Group AF 0.00487168 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94411165A>T , CM000669.2:g.94411165A>T GRCh38
NC_000007.13:g.94040477A>T , CM000669.1:g.94040477A>T GRCh37
NC_000007.12:g.93878413A>T NCBI36
NG_007405.1:g.21605A>T , LRG_2:g.21605A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.1350+11A>T MANE Select ENSP00000297268.6:n.1350+11A>T
ENST00000297268.10:c.1350+11A>T ENSP00000297268.6:n.1350+11A>T
ENST00000620463.1:c.1344+11A>T ENSP00000477719.1:n.1344+11A>T
NM_000089.3:c.1350+11A>T , LRG_2t1:c.1350+11A>T NP_000080.2:n.1350+11A>T
NM_000089.4:c.1350+11A>T MANE Select NP_000080.2:n.1350+11A>T
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