Canonical Allele Identifier: CA368222081

Gene: COL1A2

Linked Data

• dbSNP Id: rs1057516053
• MyVariant Identifiers: chr7:g.94042441G>C (hg19) ; chr7:g.94413129G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94413129G>C , CM000669.2:g.94413129G>C	GRCh38
NC_000007.13:g.94042441G>C , CM000669.1:g.94042441G>C	GRCh37
NC_000007.12:g.93880377G>C	NCBI36
NG_007405.1:g.23569G>C , LRG_2:g.23569G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.1550G>C MANE Select	ENSP00000297268.6:p.Gly517Ala
ENST00000297268.10:c.1550G>C	ENSP00000297268.6:p.Gly517Ala
ENST00000620463.1:c.1544G>C	ENSP00000477719.1:p.Gly515Ala
NM_000089.3:c.1550G>C , LRG_2t1:c.1550G>C	NP_000080.2:p.Gly517Ala
NM_000089.4:c.1550G>C MANE Select	NP_000080.2:p.Gly517Ala