Canonical Allele Identifier: CA4346648
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs755023126
ExAC: 7:94034096 C / T
gnomAD v2: 7-94034096-C-T
gnomAD v4: 7-94404784-C-T
MyVariant Identifiers: chr7:g.94034096C>T (hg19) chr7:g.94404784C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404784C>T , CM000669.2:g.94404784C>T GRCh38
NC_000007.13:g.94034096C>T , CM000669.1:g.94034096C>T GRCh37
NC_000007.12:g.93872032C>T NCBI36
NG_007405.1:g.15224C>T , LRG_2:g.15224C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.378+38C>T MANE Select ENSP00000297268.6:n.378+38C>T
ENST00000297268.10:c.378+38C>T ENSP00000297268.6:n.378+38C>T
ENST00000620463.1:c.372+38C>T ENSP00000477719.1:n.372+38C>T
NM_000089.3:c.378+38C>T , LRG_2t1:c.378+38C>T NP_000080.2:n.378+38C>T
NM_000089.4:c.378+38C>T MANE Select NP_000080.2:n.378+38C>T
Search 100 bp 5'
Search 100 bp 3'