Canonical Allele Identifier: CA1726790731
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401235_94401236delinsAT , CM000669.2:g.94401235_94401236delinsAT GRCh38
NC_000007.13:g.94030547_94030548delinsAT , CM000669.1:g.94030547_94030548delinsAT GRCh37
NC_000007.12:g.93868483_93868484delinsAT NCBI36
NG_007405.1:g.11675_11676delinsAT , LRG_2:g.11675_11676delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-332_226-331delinsAT MANE Select ENSP00000297268.6:n.226-332_226-331delinsAT
ENST00000297268.10:c.226-332_226-331delinsAT ENSP00000297268.6:n.226-332_226-331delinsAT
ENST00000620463.1:c.220-332_220-331delinsAT ENSP00000477719.1:n.220-332_220-331delinsAT
NM_000089.3:c.226-332_226-331delinsAT , LRG_2t1:c.226-332_226-331delinsAT NP_000080.2:n.226-332_226-331delinsAT
NM_000089.4:c.226-332_226-331delinsAT MANE Select NP_000080.2:n.226-332_226-331delinsAT