Canonical Allele Identifier: CA844003759

Gene: COL1A2

Linked Data

• dbSNP Id: rs1258604724
• MyVariant Identifiers: chr7:g.94055888C>T (hg19) ; chr7:g.94426576C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426576C>T , CM000669.2:g.94426576C>T	GRCh38
NC_000007.13:g.94055888C>T , CM000669.1:g.94055888C>T	GRCh37
NC_000007.12:g.93893824C>T	NCBI36
NG_007405.1:g.37016C>T , LRG_2:g.37016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+46C>T MANE Select	ENSP00000297268.6:n.3105+46C>T
ENST00000297268.10:c.3105+46C>T	ENSP00000297268.6:n.3105+46C>T
ENST00000478215.1:n.710C>T
ENST00000481570.5:n.3124C>T
ENST00000488121.1:n.21+46C>T
ENST00000620463.1:c.3099+46C>T	ENSP00000477719.1:n.3099+46C>T
NM_000089.3:c.3105+46C>T , LRG_2t1:c.3105+46C>T	NP_000080.2:n.3105+46C>T
NM_000089.4:c.3105+46C>T MANE Select	NP_000080.2:n.3105+46C>T