Canonical Allele Identifier: CA3751776
Gene: COL11A2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.33192261G>C
GRCh37 chr6:g.33160038G>C
gnomAD v2:
6:33160038 G / C
gnomAD v3:
6:33192261 G / C
gnomAD v4:
chr6-33192261-G-C
Joint Max Group AF 0.00016496 (NFE)
Genomes Max Group AF 0.00005285 (AMR)
Exomes Max Group AF 0.00017261 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33192261G>C , CM000668.2:g.33192261G>C GRCh38
NC_000006.11:g.33160038G>C , CM000668.1:g.33160038G>C GRCh37
NC_000006.10:g.33268016G>C NCBI36
NG_011589.1:g.5208C>G
NG_023374.1:g.13395C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.-21C>G MANE Select ENSP00000339915.2:n.-21C>G
ENST00000341947.6:c.-21C>G ENSP00000339915.2:n.-21C>G
ENST00000361917.5:c.-21C>G ENSP00000355123.1:n.-21C>G
ENST00000374708.8:c.-21C>G ENSP00000363840.4:n.-21C>G
ENST00000395194.1:c.-21C>G ENSP00000378620.1:n.-21C>G
ENST00000457788.5:c.-21C>G ENSP00000405520.1:n.-21C>G
NM_001163771.1:c.-21C>G NP_001157243.1:n.-21C>G
NM_080679.2:c.-21C>G NP_542410.2:n.-21C>G
NM_080680.2:c.-21C>G NP_542411.2:n.-21C>G
NM_080681.2:c.-21C>G NP_542412.2:n.-21C>G
XM_011514298.1:c.-765+764C>G XP_011512600.1:n.-765+764C>G
XM_017010250.1:c.-21C>G XP_016865739.1:n.-21C>G
NM_001163771.2:c.-21C>G NP_001157243.1:n.-21C>G
NM_080680.3:c.-21C>G MANE Select NP_542411.2:n.-21C>G
NM_080681.3:c.-21C>G NP_542412.2:n.-21C>G
NM_080679.3:c.-21C>G NP_542410.2:n.-21C>G
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