Canonical Allele Identifier: CA3750990
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356401
dbSNP Id: rs557236389
gnomAD v2: 6-33143857-T-C
gnomAD v3: 6-33176080-T-C
gnomAD v4: 6-33176080-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33176080T>C , CM000668.2:g.33176080T>C GRCh38
NC_000006.11:g.33143857T>C , CM000668.1:g.33143857T>C GRCh37
NC_000006.10:g.33251835T>C NCBI36
NG_011589.1:g.21389A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361917.6:c.788-11A>G
ENST00000341947.7:c.2215-11A>G MANE Select ENSP00000339915.2:n.2215-11A>G
ENST00000341947.6:c.2215-11A>G ENSP00000339915.2:n.2215-11A>G
ENST00000361917.5:c.1894-11A>G ENSP00000355123.1:n.1894-11A>G
ENST00000374708.8:c.1957-11A>G ENSP00000363840.4:n.1957-11A>G
ENST00000477772.1:n.272+929A>G
NM_080679.2:c.1894-11A>G NP_542410.2:n.1894-11A>G
NM_080680.2:c.2215-11A>G NP_542411.2:n.2215-11A>G
NM_080681.2:c.1957-11A>G NP_542412.2:n.1957-11A>G
XM_011514298.1:c.1369-11A>G XP_011512600.1:n.1369-11A>G
XM_011514299.1:c.1501-11A>G XP_011512601.1:n.1501-11A>G
XM_011514300.1:c.1321-11A>G XP_011512602.1:n.1321-11A>G
XM_011514301.1:c.1258-11A>G XP_011512603.1:n.1258-11A>G
XM_011514302.1:c.1102-11A>G XP_011512604.1:n.1102-11A>G
XM_011514299.2:c.1501-11A>G XP_011512601.1:n.1501-11A>G
XM_011514300.2:c.1321-11A>G XP_011512602.1:n.1321-11A>G
XM_011514302.2:c.1102-11A>G XP_011512604.1:n.1102-11A>G
XM_017010250.1:c.2215-11A>G XP_016865739.1:n.2215-11A>G
XM_017010251.2:c.1033-11A>G XP_016865740.1:n.1033-11A>G
NM_080680.3:c.2215-11A>G MANE Select NP_542411.2:n.2215-11A>G
NM_080681.3:c.1957-11A>G NP_542412.2:n.1957-11A>G
NM_080679.3:c.1894-11A>G NP_542410.2:n.1894-11A>G