Canonical Allele Identifier: CA4347195
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs758655982
ExAC: 7:94044594 T / A
gnomAD v2: 7-94044594-T-A
gnomAD v3: 7-94415282-T-A
gnomAD v4: 7-94415282-T-A
MyVariant Identifiers: chr7:g.94044594T>A (hg19) chr7:g.94415282T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415282T>A , CM000669.2:g.94415282T>A GRCh38
NC_000007.13:g.94044594T>A , CM000669.1:g.94044594T>A GRCh37
NC_000007.12:g.93882530T>A NCBI36
NG_007405.1:g.25722T>A , LRG_2:g.25722T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1764+12T>A MANE Select ENSP00000297268.6:n.1764+12T>A
ENST00000297268.10:c.1764+12T>A ENSP00000297268.6:n.1764+12T>A
ENST00000473573.5:n.101+12T>A
ENST00000488298.5:n.188+12T>A
ENST00000620463.1:c.1758+12T>A ENSP00000477719.1:n.1758+12T>A
NM_000089.3:c.1764+12T>A , LRG_2t1:c.1764+12T>A NP_000080.2:n.1764+12T>A
NM_000089.4:c.1764+12T>A MANE Select NP_000080.2:n.1764+12T>A
Search 100 bp 5'
Search 100 bp 3'