Canonical Allele Identifier: CA2776991356
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401695_94401696insCCACACCAAACACACCCAACAC , CM000669.2:g.94401695_94401696insCCACACCAAACACACCCAACAC GRCh38
NC_000007.13:g.94031007_94031008insCCACACCAAACACACCCAACAC , CM000669.1:g.94031007_94031008insCCACACCAAACACACCCAACAC GRCh37
NC_000007.12:g.93868943_93868944insCCACACCAAACACACCCAACAC NCBI36
NG_007405.1:g.12135_12136insCCACACCAAACACACCCAACAC , LRG_2:g.12135_12136insCCACACCAAACACACCCAACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+75_279+76insCCACACCAAACACACCCAACAC MANE Select ENSP00000297268.6:n.279+75_279+76insCCACACCAAACACACCCAACAC
ENST00000297268.10:c.279+75_279+76insCCACACCAAACACACCCAACAC ENSP00000297268.6:n.279+75_279+76insCCACACCAAACACACCCAACAC
ENST00000620463.1:c.273+75_273+76insCCACACCAAACACACCCAACAC ENSP00000477719.1:n.273+75_273+76insCCACACCAAACACACCCAACAC
NM_000089.3:c.279+75_279+76insCCACACCAAACACACCCAACAC , LRG_2t1:c.279+75_279+76insCCACACCAAACACACCCAACAC NP_000080.2:n.279+75_279+76insCCACACCAAACACACCCAACAC
NM_000089.4:c.279+75_279+76insCCACACCAAACACACCCAACAC MANE Select NP_000080.2:n.279+75_279+76insCCACACCAAACACACCCAACAC