Canonical Allele Identifier: CA4347144

Gene: COL1A2

Linked Data

• ClinVar Variation Id: 254953
• ClinVar RCV Id: RCV000244604 ; RCV000269609 ; RCV000323983 ; RCV000987925 ; RCV001512869 ; RCV001589216 ; RCV001589217 ; RCV001589218 ; RCV001812668 ; RCV002277599 ; RCV002392755
• dbSNP Id: rs42524
• ExAC: 7:94043239 C / G
• gnomAD v2: 7-94043239-C-G
• gnomAD v3: 7-94413927-C-G
• gnomAD v4: 7-94413927-C-G
• MyVariant Identifiers: chr7:g.94043239C>G (hg19) ; chr7:g.94413927C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94413927C>G , CM000669.2:g.94413927C>G	GRCh38
NC_000007.13:g.94043239C>G , CM000669.1:g.94043239C>G	GRCh37
NC_000007.12:g.93881175C>G	NCBI36
NG_007405.1:g.24367C>G , LRG_2:g.24367C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.1645C>G MANE Select	ENSP00000297268.6:p.Pro549Ala
ENST00000297268.10:c.1645C>G	ENSP00000297268.6:p.Pro549Ala
ENST00000488298.5:n.69C>G
ENST00000620463.1:c.1639C>G	ENSP00000477719.1:p.Pro547Ala
NM_000089.3:c.1645C>G , LRG_2t1:c.1645C>G	NP_000080.2:p.Pro549Ala
NM_000089.4:c.1645C>G MANE Select	NP_000080.2:p.Pro549Ala