Canonical Allele Identifier: CA576324455

Gene: COL1A2

Linked Data

• dbSNP Id: rs1488290158
• gnomAD v2: 7-94055670-TGTG-T
• gnomAD v3: 7-94426358-TGTG-T
• gnomAD v4: 7-94426358-TGTG-T
• MyVariant Identifiers: chr7:g.94055671_94055673del (hg19) ; chr7:g.94426359_94426361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426362_94426364del , CM000669.2:g.94426362_94426364del	GRCh38
NC_000007.13:g.94055674_94055676del , CM000669.1:g.94055674_94055676del	GRCh37
NC_000007.12:g.93893610_93893612del	NCBI36
NG_007405.1:g.36802_36804del , LRG_2:g.36802_36804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2998-61_2998-59del MANE Select	ENSP00000297268.6:n.2998-61_2998-59del
ENST00000297268.10:c.2998-61_2998-59del	ENSP00000297268.6:n.2998-61_2998-59del
ENST00000478215.1:n.557-61_557-59del
ENST00000481570.5:n.2971-61_2971-59del
ENST00000620463.1:c.2992-61_2992-59del	ENSP00000477719.1:n.2992-61_2992-59del
NM_000089.3:c.2998-61_2998-59del , LRG_2t1:c.2998-61_2998-59del	NP_000080.2:n.2998-61_2998-59del
NM_000089.4:c.2998-61_2998-59del MANE Select	NP_000080.2:n.2998-61_2998-59del