Canonical Allele Identifier: CA449867062
Gene: COL11A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33132215A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164438A>C , CM000668.2:g.33164438A>C GRCh38
NC_000006.11:g.33132215A>C , CM000668.1:g.33132215A>C GRCh37
NC_000006.10:g.33240193A>C NCBI36
NG_011589.1:g.33031T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.705T>G
ENST00000341947.7:c.4899T>G MANE Select ENSP00000339915.2:p.Gly1633=
ENST00000341947.6:c.4899T>G ENSP00000339915.2:p.Gly1633=
ENST00000361917.5:c.4578T>G ENSP00000355123.1:p.Gly1526=
ENST00000374708.8:c.4641T>G ENSP00000363840.4:p.Gly1547=
ENST00000477772.1:n.689T>G
NM_080679.2:c.4578T>G NP_542410.2:p.Gly1526=
NM_080680.2:c.4899T>G NP_542411.2:p.Gly1633=
NM_080681.2:c.4641T>G NP_542412.2:p.Gly1547=
XM_011514298.1:c.4053T>G XP_011512600.1:p.Gly1351=
XM_011514299.1:c.4185T>G XP_011512601.1:p.Gly1395=
XM_011514300.1:c.4005T>G XP_011512602.1:p.Gly1335=
XM_011514301.1:c.3942T>G XP_011512603.1:p.Gly1314=
XM_011514302.1:c.3786T>G XP_011512604.1:p.Gly1262=
XM_011514299.2:c.4185T>G XP_011512601.1:p.Gly1395=
XM_011514300.2:c.4005T>G XP_011512602.1:p.Gly1335=
XM_011514302.2:c.3786T>G XP_011512604.1:p.Gly1262=
XM_017010250.1:c.4899T>G XP_016865739.1:p.Gly1633=
XM_017010251.2:c.3717T>G XP_016865740.1:p.Gly1239=
NM_080680.3:c.4899T>G MANE Select NP_542411.2:p.Gly1633=
NM_080681.3:c.4641T>G NP_542412.2:p.Gly1547=
NM_080679.3:c.4578T>G NP_542410.2:p.Gly1526=