Canonical Allele Identifier: CA4346618
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 379658
ClinVar RCV Id: RCV000440701 RCV001159491 RCV001159492 RCV002278662 RCV002446665 RCV000659368 RCV000710783 RCV001080558
dbSNP Id: rs189557655
ExAC: 7:94033892 C / T
gnomAD v2: 7-94033892-C-T
gnomAD v3: 7-94404580-C-T
gnomAD v4: 7-94404580-C-T
MyVariant Identifiers: chr7:g.94033892C>T (hg19) chr7:g.94404580C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404580C>T , CM000669.2:g.94404580C>T GRCh38
NC_000007.13:g.94033892C>T , CM000669.1:g.94033892C>T GRCh37
NC_000007.12:g.93871828C>T NCBI36
NG_007405.1:g.15020C>T , LRG_2:g.15020C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.304C>T MANE Select ENSP00000297268.6:p.Pro102Ser
ENST00000297268.10:c.304C>T ENSP00000297268.6:p.Pro102Ser
ENST00000620463.1:c.298C>T ENSP00000477719.1:p.Pro100Ser
NM_000089.3:c.304C>T , LRG_2t1:c.304C>T NP_000080.2:p.Pro102Ser
NM_000089.4:c.304C>T MANE Select NP_000080.2:p.Pro102Ser
Search 100 bp 5'
Search 100 bp 3'