Canonical Allele Identifier: CA257797
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94410466G>C
GRCh37 chr7:g.94039778G>C
Revel Score:
ENST00000297268 (MANE Select) 0.979
ENST00000545487 0.979
ClinVar RCV:
RCV000018819
RCV002228041
ClinVar Variation:
17278
dbSNP:
121912912
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94410466G>C , CM000669.2:g.94410466G>C GRCh38
NC_000007.13:g.94039778G>C , CM000669.1:g.94039778G>C GRCh37
NC_000007.12:g.93877714G>C NCBI36
NG_007405.1:g.20906G>C , LRG_2:g.20906G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.1136G>C MANE Select ENSP00000297268.6:p.Gly379Ala
ENST00000297268.10:c.1136G>C ENSP00000297268.6:p.Gly379Ala
ENST00000620463.1:c.1130G>C ENSP00000477719.1:p.Gly377Ala
NM_000089.3:c.1136G>C , LRG_2t1:c.1136G>C NP_000080.2:p.Gly379Ala
NM_000089.4:c.1136G>C MANE Select NP_000080.2:p.Gly379Ala
Search 100 bp 5'
Search 100 bp 3'