Canonical Allele Identifier: CA363616110

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132129C>T (hg19) ; chr6:g.33164352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164352C>T , CM000668.2:g.33164352C>T	GRCh38
NC_000006.11:g.33132129C>T , CM000668.1:g.33132129C>T	GRCh37
NC_000006.10:g.33240107C>T	NCBI36
NG_011589.1:g.33117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.791G>A
ENST00000341947.7:c.4985G>A MANE Select	ENSP00000339915.2:p.Gly1662Asp
ENST00000341947.6:c.4985G>A	ENSP00000339915.2:p.Gly1662Asp
ENST00000361917.5:c.4664G>A	ENSP00000355123.1:p.Gly1555Asp
ENST00000374708.8:c.4727G>A	ENSP00000363840.4:p.Gly1576Asp
ENST00000477772.1:n.775G>A
NM_080679.2:c.4664G>A	NP_542410.2:p.Gly1555Asp
NM_080680.2:c.4985G>A	NP_542411.2:p.Gly1662Asp
NM_080681.2:c.4727G>A	NP_542412.2:p.Gly1576Asp
XM_011514298.1:c.4139G>A	XP_011512600.1:p.Gly1380Asp
XM_011514299.1:c.4271G>A	XP_011512601.1:p.Gly1424Asp
XM_011514300.1:c.4091G>A	XP_011512602.1:p.Gly1364Asp
XM_011514301.1:c.4028G>A	XP_011512603.1:p.Gly1343Asp
XM_011514302.1:c.3872G>A	XP_011512604.1:p.Gly1291Asp
XM_011514299.2:c.4271G>A	XP_011512601.1:p.Gly1424Asp
XM_011514300.2:c.4091G>A	XP_011512602.1:p.Gly1364Asp
XM_011514302.2:c.3872G>A	XP_011512604.1:p.Gly1291Asp
XM_017010250.1:c.4985G>A	XP_016865739.1:p.Gly1662Asp
XM_017010251.2:c.3803G>A	XP_016865740.1:p.Gly1268Asp
NM_080680.3:c.4985G>A MANE Select	NP_542411.2:p.Gly1662Asp
NM_080681.3:c.4727G>A	NP_542412.2:p.Gly1576Asp
NM_080679.3:c.4664G>A	NP_542410.2:p.Gly1555Asp