Canonical Allele Identifier: CA368225092
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs200357942
gnomAD v2: 7-94055751-G-T
gnomAD v3: 7-94426439-G-T
gnomAD v4: 7-94426439-G-T
MyVariant Identifiers: chr7:g.94055751G>T (hg19) chr7:g.94426439G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426439G>T , CM000669.2:g.94426439G>T GRCh38
NC_000007.13:g.94055751G>T , CM000669.1:g.94055751G>T GRCh37
NC_000007.12:g.93893687G>T NCBI36
NG_007405.1:g.36879G>T , LRG_2:g.36879G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3014G>T MANE Select ENSP00000297268.6:p.Arg1005Leu
ENST00000297268.10:c.3014G>T ENSP00000297268.6:p.Arg1005Leu
ENST00000478215.1:n.573G>T
ENST00000481570.5:n.2987G>T
ENST00000620463.1:c.3008G>T ENSP00000477719.1:p.Arg1003Leu
NM_000089.3:c.3014G>T , LRG_2t1:c.3014G>T NP_000080.2:p.Arg1005Leu
NM_000089.4:c.3014G>T MANE Select NP_000080.2:p.Arg1005Leu
Search 100 bp 5'
Search 100 bp 3'