Canonical Allele Identifier: CA2683769685
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94415281-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415281C>T , CM000669.2:g.94415281C>T GRCh38
NC_000007.13:g.94044593C>T , CM000669.1:g.94044593C>T GRCh37
NC_000007.12:g.93882529C>T NCBI36
NG_007405.1:g.25721C>T , LRG_2:g.25721C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1764+11C>T MANE Select ENSP00000297268.6:n.1764+11C>T
ENST00000297268.10:c.1764+11C>T ENSP00000297268.6:n.1764+11C>T
ENST00000473573.5:n.101+11C>T
ENST00000488298.5:n.188+11C>T
ENST00000620463.1:c.1758+11C>T ENSP00000477719.1:n.1758+11C>T
NM_000089.3:c.1764+11C>T , LRG_2t1:c.1764+11C>T NP_000080.2:n.1764+11C>T
NM_000089.4:c.1764+11C>T MANE Select NP_000080.2:n.1764+11C>T
Search 100 bp 5'
Search 100 bp 3'