Canonical Allele Identifier: CA2683766782

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94401529-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401529_94401530insA , CM000669.2:g.94401529_94401530insA	GRCh38
NC_000007.13:g.94030841_94030842insA , CM000669.1:g.94030841_94030842insA	GRCh37
NC_000007.12:g.93868777_93868778insA	NCBI36
NG_007405.1:g.11969_11970insA , LRG_2:g.11969_11970insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.226-38_226-37insA MANE Select	ENSP00000297268.6:n.226-38_226-37insA
ENST00000297268.10:c.226-38_226-37insA	ENSP00000297268.6:n.226-38_226-37insA
ENST00000620463.1:c.220-38_220-37insA	ENSP00000477719.1:n.220-38_220-37insA
NM_000089.3:c.226-38_226-37insA , LRG_2t1:c.226-38_226-37insA	NP_000080.2:n.226-38_226-37insA
NM_000089.4:c.226-38_226-37insA MANE Select	NP_000080.2:n.226-38_226-37insA