Canonical Allele Identifier: CA2986914718
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164849dup , CM000668.2:g.33164849dup GRCh38
NC_000006.11:g.33132626dup , CM000668.1:g.33132626dup GRCh37
NC_000006.10:g.33240604dup NCBI36
NG_011589.1:g.32620dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.669+3dup
ENST00000341947.7:c.4863+3dup MANE Select ENSP00000339915.2:n.4863+3dup
ENST00000341947.6:c.4863+3dup ENSP00000339915.2:n.4863+3dup
ENST00000361917.5:c.4542+3dup ENSP00000355123.1:n.4542+3dup
ENST00000374708.8:c.4605+3dup ENSP00000363840.4:n.4605+3dup
ENST00000477772.1:n.653+3dup
NM_080679.2:c.4542+3dup NP_542410.2:n.4542+3dup
NM_080680.2:c.4863+3dup NP_542411.2:n.4863+3dup
NM_080681.2:c.4605+3dup NP_542412.2:n.4605+3dup
XM_011514298.1:c.4017+3dup XP_011512600.1:n.4017+3dup
XM_011514299.1:c.4149+3dup XP_011512601.1:n.4149+3dup
XM_011514300.1:c.3969+3dup XP_011512602.1:n.3969+3dup
XM_011514301.1:c.3906+3dup XP_011512603.1:n.3906+3dup
XM_011514302.1:c.3750+3dup XP_011512604.1:n.3750+3dup
XM_011514299.2:c.4149+3dup XP_011512601.1:n.4149+3dup
XM_011514300.2:c.3969+3dup XP_011512602.1:n.3969+3dup
XM_011514302.2:c.3750+3dup XP_011512604.1:n.3750+3dup
XM_017010250.1:c.4863+3dup XP_016865739.1:n.4863+3dup
XM_017010251.2:c.3681+3dup XP_016865740.1:n.3681+3dup
NM_080680.3:c.4863+3dup MANE Select NP_542411.2:n.4863+3dup
NM_080681.3:c.4605+3dup NP_542412.2:n.4605+3dup
NM_080679.3:c.4542+3dup NP_542410.2:n.4542+3dup