Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

ALLELE REGISTRY - SERVICE INTERRUPTION2024-08-10T11:00:00-0500 — 2024-08-10T15:00:00-0500
The ClinGen Allele Registry will have an off-hours outage to perform maintenance tasks.
The outage will not take the entire interruption period.

ClinGen Allele Registry

Canonical Allele Identifier: CA1104604290

Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1791695476

gnomAD v3: 7-94401776-ATAAGT-A

gnomAD v4: 7-94401776-ATAAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401781_94401785del , CM000669.2:g.94401781_94401785del	GRCh38
NC_000007.13:g.94031093_94031097del , CM000669.1:g.94031093_94031097del	GRCh37
NC_000007.12:g.93869029_93869033del	NCBI36
NG_007405.1:g.12221_12225del , LRG_2:g.12221_12225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+161_279+165del MANE Select	ENSP00000297268.6:n.279+161_279+165del
ENST00000297268.10:c.279+161_279+165del	ENSP00000297268.6:n.279+161_279+165del
ENST00000620463.1:c.273+161_273+165del	ENSP00000477719.1:n.273+161_273+165del
NM_000089.3:c.279+161_279+165del , LRG_2t1:c.279+161_279+165del	NP_000080.2:n.279+161_279+165del
NM_000089.4:c.279+161_279+165del MANE Select	NP_000080.2:n.279+161_279+165del