Canonical Allele Identifier: CA918076019

Gene: COL1A2

Linked Data

• dbSNP Id: rs1562904167
• gnomAD v4: 7-94417803-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94417804dup , CM000669.2:g.94417804dup	GRCh38
NC_000007.13:g.94047116dup , CM000669.1:g.94047116dup	GRCh37
NC_000007.12:g.93885052dup	NCBI36
NG_007405.1:g.28244dup , LRG_2:g.28244dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.1944dup MANE Select	ENSP00000297268.6:p.Gly649TrpfsTer11
ENST00000297268.10:c.1944dup	ENSP00000297268.6:p.Gly649TrpfsTer11
ENST00000461525.5:n.33dup
ENST00000473573.5:n.281dup
ENST00000497316.5:n.341dup
ENST00000620463.1:c.1938dup	ENSP00000477719.1:p.Gly647TrpfsTer11
NM_000089.3:c.1944dup , LRG_2t1:c.1944dup	NP_000080.2:p.Gly649TrpfsTer11
NM_000089.4:c.1944dup MANE Select	NP_000080.2:p.Gly649TrpfsTer11