Canonical Allele Identifier: CA2683766792
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94401535-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401535A>T , CM000669.2:g.94401535A>T GRCh38
NC_000007.13:g.94030847A>T , CM000669.1:g.94030847A>T GRCh37
NC_000007.12:g.93868783A>T NCBI36
NG_007405.1:g.11975A>T , LRG_2:g.11975A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-32A>T MANE Select ENSP00000297268.6:n.226-32A>T
ENST00000297268.10:c.226-32A>T ENSP00000297268.6:n.226-32A>T
ENST00000620463.1:c.220-32A>T ENSP00000477719.1:n.220-32A>T
NM_000089.3:c.226-32A>T , LRG_2t1:c.226-32A>T NP_000080.2:n.226-32A>T
NM_000089.4:c.226-32A>T MANE Select NP_000080.2:n.226-32A>T