Canonical Allele Identifier: CA363616464

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132202T>G (hg19) ; chr6:g.33164425T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164425T>G , CM000668.2:g.33164425T>G	GRCh38
NC_000006.11:g.33132202T>G , CM000668.1:g.33132202T>G	GRCh37
NC_000006.10:g.33240180T>G	NCBI36
NG_011589.1:g.33044A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.718A>C
ENST00000341947.7:c.4912A>C MANE Select	ENSP00000339915.2:p.Thr1638Pro
ENST00000341947.6:c.4912A>C	ENSP00000339915.2:p.Thr1638Pro
ENST00000361917.5:c.4591A>C	ENSP00000355123.1:p.Thr1531Pro
ENST00000374708.8:c.4654A>C	ENSP00000363840.4:p.Thr1552Pro
ENST00000477772.1:n.702A>C
NM_080679.2:c.4591A>C	NP_542410.2:p.Thr1531Pro
NM_080680.2:c.4912A>C	NP_542411.2:p.Thr1638Pro
NM_080681.2:c.4654A>C	NP_542412.2:p.Thr1552Pro
XM_011514298.1:c.4066A>C	XP_011512600.1:p.Thr1356Pro
XM_011514299.1:c.4198A>C	XP_011512601.1:p.Thr1400Pro
XM_011514300.1:c.4018A>C	XP_011512602.1:p.Thr1340Pro
XM_011514301.1:c.3955A>C	XP_011512603.1:p.Thr1319Pro
XM_011514302.1:c.3799A>C	XP_011512604.1:p.Thr1267Pro
XM_011514299.2:c.4198A>C	XP_011512601.1:p.Thr1400Pro
XM_011514300.2:c.4018A>C	XP_011512602.1:p.Thr1340Pro
XM_011514302.2:c.3799A>C	XP_011512604.1:p.Thr1267Pro
XM_017010250.1:c.4912A>C	XP_016865739.1:p.Thr1638Pro
XM_017010251.2:c.3730A>C	XP_016865740.1:p.Thr1244Pro
NM_080680.3:c.4912A>C MANE Select	NP_542411.2:p.Thr1638Pro
NM_080681.3:c.4654A>C	NP_542412.2:p.Thr1552Pro
NM_080679.3:c.4591A>C	NP_542410.2:p.Thr1531Pro