Canonical Allele Identifier: CA449867332
Gene: COL11A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33132740T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164963T>G , CM000668.2:g.33164963T>G GRCh38
NC_000006.11:g.33132740T>G , CM000668.1:g.33132740T>G GRCh37
NC_000006.10:g.33240718T>G NCBI36
NG_011589.1:g.32506A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.558A>C
ENST00000341947.7:c.4752A>C MANE Select ENSP00000339915.2:p.Gly1584=
ENST00000341947.6:c.4752A>C ENSP00000339915.2:p.Gly1584=
ENST00000361917.5:c.4431A>C ENSP00000355123.1:p.Gly1477=
ENST00000374708.8:c.4494A>C ENSP00000363840.4:p.Gly1498=
ENST00000477772.1:n.542A>C
NM_080679.2:c.4431A>C NP_542410.2:p.Gly1477=
NM_080680.2:c.4752A>C NP_542411.2:p.Gly1584=
NM_080681.2:c.4494A>C NP_542412.2:p.Gly1498=
XM_011514298.1:c.3906A>C XP_011512600.1:p.Gly1302=
XM_011514299.1:c.4038A>C XP_011512601.1:p.Gly1346=
XM_011514300.1:c.3858A>C XP_011512602.1:p.Gly1286=
XM_011514301.1:c.3795A>C XP_011512603.1:p.Gly1265=
XM_011514302.1:c.3639A>C XP_011512604.1:p.Gly1213=
XM_011514299.2:c.4038A>C XP_011512601.1:p.Gly1346=
XM_011514300.2:c.3858A>C XP_011512602.1:p.Gly1286=
XM_011514302.2:c.3639A>C XP_011512604.1:p.Gly1213=
XM_017010250.1:c.4752A>C XP_016865739.1:p.Gly1584=
XM_017010251.2:c.3570A>C XP_016865740.1:p.Gly1190=
NM_080680.3:c.4752A>C MANE Select NP_542411.2:p.Gly1584=
NM_080681.3:c.4494A>C NP_542412.2:p.Gly1498=
NM_080679.3:c.4431A>C NP_542410.2:p.Gly1477=