Canonical Allele Identifier: CA4346655
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003772
ClinVar RCV Id: RCV002241751
dbSNP Id: rs774774401
ExAC: 7:94034154 C / T
gnomAD v2: 7-94034154-C-T
gnomAD v3: 7-94404842-C-T
gnomAD v4: 7-94404842-C-T
MyVariant Identifiers: chr7:g.94034154C>T (hg19) chr7:g.94404842C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404842C>T , CM000669.2:g.94404842C>T GRCh38
NC_000007.13:g.94034154C>T , CM000669.1:g.94034154C>T GRCh37
NC_000007.12:g.93872090C>T NCBI36
NG_007405.1:g.15282C>T , LRG_2:g.15282C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.382C>T MANE Select ENSP00000297268.6:p.Pro128Ser
ENST00000297268.10:c.382C>T ENSP00000297268.6:p.Pro128Ser
ENST00000620463.1:c.376C>T ENSP00000477719.1:p.Pro126Ser
NM_000089.3:c.382C>T , LRG_2t1:c.382C>T NP_000080.2:p.Pro128Ser
NM_000089.4:c.382C>T MANE Select NP_000080.2:p.Pro128Ser
Search 100 bp 5'
Search 100 bp 3'