Canonical Allele Identifier: CA368219391
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94401610-C-T
MyVariant Identifiers: chr7:g.94030922C>T (hg19) chr7:g.94401610C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401610C>T , CM000669.2:g.94401610C>T GRCh38
NC_000007.13:g.94030922C>T , CM000669.1:g.94030922C>T GRCh37
NC_000007.12:g.93868858C>T NCBI36
NG_007405.1:g.12050C>T , LRG_2:g.12050C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.269C>T MANE Select ENSP00000297268.6:p.Pro90Leu
ENST00000297268.10:c.269C>T ENSP00000297268.6:p.Pro90Leu
ENST00000620463.1:c.263C>T ENSP00000477719.1:p.Pro88Leu
NM_000089.3:c.269C>T , LRG_2t1:c.269C>T NP_000080.2:p.Pro90Leu
NM_000089.4:c.269C>T MANE Select NP_000080.2:p.Pro90Leu
Search 100 bp 5'
Search 100 bp 3'