Canonical Allele Identifier: CA4346656
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs774774401
ExAC: 7:94034154 C / A
gnomAD v2: 7-94034154-C-A
gnomAD v4: 7-94404842-C-A
MyVariant Identifiers: chr7:g.94034154C>A (hg19) chr7:g.94404842C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.382C>A MANE Select ENSP00000297268.6:p.Pro128Thr
ENST00000297268.10:c.382C>A ENSP00000297268.6:p.Pro128Thr
ENST00000620463.1:c.376C>A ENSP00000477719.1:p.Pro126Thr
NM_000089.3:c.382C>A , LRG_2t1:c.382C>A NP_000080.2:p.Pro128Thr
NM_000089.4:c.382C>A MANE Select NP_000080.2:p.Pro128Thr
Search 100 bp 5'
Search 100 bp 3'