Canonical Allele Identifier: CA162908755
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs978531129
gnomAD v2: 7-94030999-T-C
gnomAD v3: 7-94401687-T-C
gnomAD v4: 7-94401687-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401687T>C , CM000669.2:g.94401687T>C GRCh38
NC_000007.13:g.94030999T>C , CM000669.1:g.94030999T>C GRCh37
NC_000007.12:g.93868935T>C NCBI36
NG_007405.1:g.12127T>C , LRG_2:g.12127T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+67T>C MANE Select ENSP00000297268.6:n.279+67T>C
ENST00000297268.10:c.279+67T>C ENSP00000297268.6:n.279+67T>C
ENST00000620463.1:c.273+67T>C ENSP00000477719.1:n.273+67T>C
NM_000089.3:c.279+67T>C , LRG_2t1:c.279+67T>C NP_000080.2:n.279+67T>C
NM_000089.4:c.279+67T>C MANE Select NP_000080.2:n.279+67T>C