Canonical Allele Identifier: CA2683766717
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401467_94401469del , CM000669.2:g.94401467_94401469del GRCh38
NC_000007.13:g.94030779_94030781del , CM000669.1:g.94030779_94030781del GRCh37
NC_000007.12:g.93868715_93868717del NCBI36
NG_007405.1:g.11907_11909del , LRG_2:g.11907_11909del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-100_226-98del MANE Select ENSP00000297268.6:n.226-100_226-98del
ENST00000297268.10:c.226-100_226-98del ENSP00000297268.6:n.226-100_226-98del
ENST00000620463.1:c.220-100_220-98del ENSP00000477719.1:n.220-100_220-98del
NM_000089.3:c.226-100_226-98del , LRG_2t1:c.226-100_226-98del NP_000080.2:n.226-100_226-98del
NM_000089.4:c.226-100_226-98del MANE Select NP_000080.2:n.226-100_226-98del