Canonical Allele Identifier: CA368219507
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94404601-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404601G>A , CM000669.2:g.94404601G>A GRCh38
NC_000007.13:g.94033913G>A , CM000669.1:g.94033913G>A GRCh37
NC_000007.12:g.93871849G>A NCBI36
NG_007405.1:g.15041G>A , LRG_2:g.15041G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.324+1G>A MANE Select ENSP00000297268.6:n.324+1G>A
ENST00000297268.10:c.324+1G>A ENSP00000297268.6:n.324+1G>A
ENST00000620463.1:c.318+1G>A ENSP00000477719.1:n.318+1G>A
NM_000089.3:c.324+1G>A , LRG_2t1:c.324+1G>A NP_000080.2:n.324+1G>A
NM_000089.4:c.324+1G>A MANE Select NP_000080.2:n.324+1G>A