Canonical Allele Identifier: CA1104605249
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v3: 7-94404867-G-GA
gnomAD v4: 7-94404867-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404867_94404868insA , CM000669.2:g.94404867_94404868insA GRCh38
NC_000007.13:g.94034179_94034180insA , CM000669.1:g.94034179_94034180insA GRCh37
NC_000007.12:g.93872115_93872116insA NCBI36
NG_007405.1:g.15307_15308insA , LRG_2:g.15307_15308insA

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.407_408insA MANE Select ENSP00000297268.6:p.Pro138SerfsTer6
ENST00000297268.10:c.407_408insA ENSP00000297268.6:p.Pro138SerfsTer6
ENST00000620463.1:c.401_402insA ENSP00000477719.1:p.Pro136SerfsTer6
NM_000089.3:c.407_408insA , LRG_2t1:c.407_408insA NP_000080.2:p.Pro138SerfsTer6
NM_000089.4:c.407_408insA MANE Select NP_000080.2:p.Pro138SerfsTer6
Search 100 bp 5'
Search 100 bp 3'