Canonical Allele Identifier: CA844003763

Gene: COL1A2

Linked Data

• dbSNP Id: rs1460963490
• MyVariant Identifiers: chr7:g.94055899_94055907del (hg19) ; chr7:g.94426587_94426595del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426587_94426595del , CM000669.2:g.94426587_94426595del	GRCh38
NC_000007.13:g.94055899_94055907del , CM000669.1:g.94055899_94055907del	GRCh37
NC_000007.12:g.93893835_93893843del	NCBI36
NG_007405.1:g.37027_37035del , LRG_2:g.37027_37035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+57_3105+65del MANE Select	ENSP00000297268.6:n.3105+57_3105+65del
ENST00000297268.10:c.3105+57_3105+65del	ENSP00000297268.6:n.3105+57_3105+65del
ENST00000478215.1:n.721_729del
ENST00000481570.5:n.3135_3143del
ENST00000488121.1:n.21+57_21+65del
ENST00000620463.1:c.3099+57_3099+65del	ENSP00000477719.1:n.3099+57_3099+65del
NM_000089.3:c.3105+57_3105+65del , LRG_2t1:c.3105+57_3105+65del	NP_000080.2:n.3105+57_3105+65del
NM_000089.4:c.3105+57_3105+65del MANE Select	NP_000080.2:n.3105+57_3105+65del