Canonical Allele Identifier: CA449867263
Gene: COL11A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33132650C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164873C>G , CM000668.2:g.33164873C>G GRCh38
NC_000006.11:g.33132650C>G , CM000668.1:g.33132650C>G GRCh37
NC_000006.10:g.33240628C>G NCBI36
NG_011589.1:g.32596G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.648G>C
ENST00000341947.7:c.4842G>C MANE Select ENSP00000339915.2:p.Thr1614=
ENST00000341947.6:c.4842G>C ENSP00000339915.2:p.Thr1614=
ENST00000361917.5:c.4521G>C ENSP00000355123.1:p.Thr1507=
ENST00000374708.8:c.4584G>C ENSP00000363840.4:p.Thr1528=
ENST00000477772.1:n.632G>C
NM_080679.2:c.4521G>C NP_542410.2:p.Thr1507=
NM_080680.2:c.4842G>C NP_542411.2:p.Thr1614=
NM_080681.2:c.4584G>C NP_542412.2:p.Thr1528=
XM_011514298.1:c.3996G>C XP_011512600.1:p.Thr1332=
XM_011514299.1:c.4128G>C XP_011512601.1:p.Thr1376=
XM_011514300.1:c.3948G>C XP_011512602.1:p.Thr1316=
XM_011514301.1:c.3885G>C XP_011512603.1:p.Thr1295=
XM_011514302.1:c.3729G>C XP_011512604.1:p.Thr1243=
XM_011514299.2:c.4128G>C XP_011512601.1:p.Thr1376=
XM_011514300.2:c.3948G>C XP_011512602.1:p.Thr1316=
XM_011514302.2:c.3729G>C XP_011512604.1:p.Thr1243=
XM_017010250.1:c.4842G>C XP_016865739.1:p.Thr1614=
XM_017010251.2:c.3660G>C XP_016865740.1:p.Thr1220=
NM_080680.3:c.4842G>C MANE Select NP_542411.2:p.Thr1614=
NM_080681.3:c.4584G>C NP_542412.2:p.Thr1528=
NM_080679.3:c.4521G>C NP_542410.2:p.Thr1507=