Canonical Allele Identifier: CA2683768139
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94409218-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94409218T>G , CM000669.2:g.94409218T>G GRCh38
NC_000007.13:g.94038530T>G , CM000669.1:g.94038530T>G GRCh37
NC_000007.12:g.93876466T>G NCBI36
NG_007405.1:g.19658T>G , LRG_2:g.19658T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.793-104T>G MANE Select ENSP00000297268.6:n.793-104T>G
ENST00000297268.10:c.793-104T>G ENSP00000297268.6:n.793-104T>G
ENST00000620463.1:c.787-104T>G ENSP00000477719.1:n.787-104T>G
NM_000089.3:c.793-104T>G , LRG_2t1:c.793-104T>G NP_000080.2:n.793-104T>G
NM_000089.4:c.793-104T>G MANE Select NP_000080.2:n.793-104T>G
Search 100 bp 5'
Search 100 bp 3'