Canonical Allele Identifier: CA162928237
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs868663254
MyVariant Identifiers: chr7:g.94044578C>T (hg19) chr7:g.94415266C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415266C>T , CM000669.2:g.94415266C>T GRCh38
NC_000007.13:g.94044578C>T , CM000669.1:g.94044578C>T GRCh37
NC_000007.12:g.93882514C>T NCBI36
NG_007405.1:g.25706C>T , LRG_2:g.25706C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1760C>T MANE Select ENSP00000297268.6:p.Pro587Leu
ENST00000297268.10:c.1760C>T ENSP00000297268.6:p.Pro587Leu
ENST00000473573.5:n.97C>T
ENST00000488298.5:n.184C>T
ENST00000620463.1:c.1754C>T ENSP00000477719.1:p.Pro585Leu
NM_000089.3:c.1760C>T , LRG_2t1:c.1760C>T NP_000080.2:p.Pro587Leu
NM_000089.4:c.1760C>T MANE Select NP_000080.2:p.Pro587Leu
Search 100 bp 5'
Search 100 bp 3'