Canonical Allele Identifier: CA4347620
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94425994A>T
GRCh37 chr7:g.94055306A>T
gnomAD v2:
7:94055306 A / T
gnomAD v3:
7:94425994 A / T
gnomAD v4:
chr7-94425994-A-T
Joint Max Group AF 0.00000247 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94425994A>T , CM000669.2:g.94425994A>T GRCh38
NC_000007.13:g.94055306A>T , CM000669.1:g.94055306A>T GRCh37
NC_000007.12:g.93893242A>T NCBI36
NG_007405.1:g.36434A>T , LRG_2:g.36434A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2944-4A>T MANE Select ENSP00000297268.6:n.2944-4A>T
ENST00000297268.10:c.2944-4A>T ENSP00000297268.6:n.2944-4A>T
ENST00000478215.1:n.503-4A>T
ENST00000481570.5:n.2917-4A>T
ENST00000620463.1:c.2938-4A>T ENSP00000477719.1:n.2938-4A>T
NM_000089.3:c.2944-4A>T , LRG_2t1:c.2944-4A>T NP_000080.2:n.2944-4A>T
NM_000089.4:c.2944-4A>T MANE Select NP_000080.2:n.2944-4A>T
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