Canonical Allele Identifier: CA449866977
Gene: COL11A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33132146A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164369A>G , CM000668.2:g.33164369A>G GRCh38
NC_000006.11:g.33132146A>G , CM000668.1:g.33132146A>G GRCh37
NC_000006.10:g.33240124A>G NCBI36
NG_011589.1:g.33100T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.774T>C
ENST00000341947.7:c.4968T>C MANE Select ENSP00000339915.2:p.Ser1656=
ENST00000341947.6:c.4968T>C ENSP00000339915.2:p.Ser1656=
ENST00000361917.5:c.4647T>C ENSP00000355123.1:p.Ser1549=
ENST00000374708.8:c.4710T>C ENSP00000363840.4:p.Ser1570=
ENST00000477772.1:n.758T>C
NM_080679.2:c.4647T>C NP_542410.2:p.Ser1549=
NM_080680.2:c.4968T>C NP_542411.2:p.Ser1656=
NM_080681.2:c.4710T>C NP_542412.2:p.Ser1570=
XM_011514298.1:c.4122T>C XP_011512600.1:p.Ser1374=
XM_011514299.1:c.4254T>C XP_011512601.1:p.Ser1418=
XM_011514300.1:c.4074T>C XP_011512602.1:p.Ser1358=
XM_011514301.1:c.4011T>C XP_011512603.1:p.Ser1337=
XM_011514302.1:c.3855T>C XP_011512604.1:p.Ser1285=
XM_011514299.2:c.4254T>C XP_011512601.1:p.Ser1418=
XM_011514300.2:c.4074T>C XP_011512602.1:p.Ser1358=
XM_011514302.2:c.3855T>C XP_011512604.1:p.Ser1285=
XM_017010250.1:c.4968T>C XP_016865739.1:p.Ser1656=
XM_017010251.2:c.3786T>C XP_016865740.1:p.Ser1262=
NM_080680.3:c.4968T>C MANE Select NP_542411.2:p.Ser1656=
NM_080681.3:c.4710T>C NP_542412.2:p.Ser1570=
NM_080679.3:c.4647T>C NP_542410.2:p.Ser1549=