Canonical Allele Identifier: CA658796974

Gene: COL1A2

Linked Data

• ClinVar Variation Id: 521055
• ClinVar RCV Id: RCV000622312
• dbSNP Id: rs1554398396
• MyVariant Identifiers: chr7:g.94055331_94055339dup (hg19) ; chr7:g.94426019_94426027dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426019_94426027dup , CM000669.2:g.94426019_94426027dup	GRCh38
NC_000007.13:g.94055331_94055339dup , CM000669.1:g.94055331_94055339dup	GRCh37
NC_000007.12:g.93893267_93893275dup	NCBI36
NG_007405.1:g.36459_36467dup , LRG_2:g.36459_36467dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.2965_2973dup MANE Select	ENSP00000297268.6:p.Gly991_Ala992insProAlaGly
ENST00000297268.10:c.2965_2973dup	ENSP00000297268.6:p.Gly991_Ala992insProAlaGly
ENST00000478215.1:n.524_532dup
ENST00000481570.5:n.2938_2946dup
ENST00000620463.1:c.2959_2967dup	ENSP00000477719.1:p.Gly989_Ala990insProAlaGly
NM_000089.3:c.2965_2973dup , LRG_2t1:c.2965_2973dup	NP_000080.2:p.Gly991_Ala992insProAlaGly
NM_000089.4:c.2965_2973dup MANE Select	NP_000080.2:p.Gly991_Ala992insProAlaGly