Canonical Allele Identifier: CA576707143

Gene: COL1A2

Linked Data

• dbSNP Id: rs1182661936
• gnomAD v2: 7-94052469-C-CAAA
• MyVariant Identifiers: chr7:g.94052469_94052470insAAA (hg19) ; chr7:g.94423157_94423158insAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94423157_94423158insAAA , CM000669.2:g.94423157_94423158insAAA	GRCh38
NC_000007.13:g.94052469_94052470insAAA , CM000669.1:g.94052469_94052470insAAA	GRCh37
NC_000007.12:g.93890405_93890406insAAA	NCBI36
NG_007405.1:g.33597_33598insAAA , LRG_2:g.33597_33598insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2565+39_2565+40insAAA MANE Select	ENSP00000297268.6:n.2565+39_2565+40insAAA
ENST00000297268.10:c.2565+39_2565+40insAAA	ENSP00000297268.6:n.2565+39_2565+40insAAA
ENST00000481570.5:n.687_688insAAA
ENST00000620463.1:c.2559+39_2559+40insAAA	ENSP00000477719.1:n.2559+39_2559+40insAAA
NM_000089.3:c.2565+39_2565+40insAAA , LRG_2t1:c.2565+39_2565+40insAAA	NP_000080.2:n.2565+39_2565+40insAAA
NM_000089.4:c.2565+39_2565+40insAAA MANE Select	NP_000080.2:n.2565+39_2565+40insAAA