Canonical Allele Identifier: CA363644274

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142330C>A (hg19) ; chr6:g.33174553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174553C>A , CM000668.2:g.33174553C>A	GRCh38
NC_000006.11:g.33142330C>A , CM000668.1:g.33142330C>A	GRCh37
NC_000006.10:g.33250308C>A	NCBI36
NG_011589.1:g.22916G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.977G>T
ENST00000341947.7:c.2404G>T MANE Select	ENSP00000339915.2:p.Gly802Cys
ENST00000341947.6:c.2404G>T	ENSP00000339915.2:p.Gly802Cys
ENST00000361917.5:c.2083G>T	ENSP00000355123.1:p.Gly695Cys
ENST00000374708.8:c.2146G>T	ENSP00000363840.4:p.Gly716Cys
ENST00000477772.1:n.272+2456G>T
NM_080679.2:c.2083G>T	NP_542410.2:p.Gly695Cys
NM_080680.2:c.2404G>T	NP_542411.2:p.Gly802Cys
NM_080681.2:c.2146G>T	NP_542412.2:p.Gly716Cys
XM_011514298.1:c.1558G>T	XP_011512600.1:p.Gly520Cys
XM_011514299.1:c.1690G>T	XP_011512601.1:p.Gly564Cys
XM_011514300.1:c.1510G>T	XP_011512602.1:p.Gly504Cys
XM_011514301.1:c.1447G>T	XP_011512603.1:p.Gly483Cys
XM_011514302.1:c.1291G>T	XP_011512604.1:p.Gly431Cys
XM_011514299.2:c.1690G>T	XP_011512601.1:p.Gly564Cys
XM_011514300.2:c.1510G>T	XP_011512602.1:p.Gly504Cys
XM_011514302.2:c.1291G>T	XP_011512604.1:p.Gly431Cys
XM_017010250.1:c.2404G>T	XP_016865739.1:p.Gly802Cys
XM_017010251.2:c.1222G>T	XP_016865740.1:p.Gly408Cys
NM_080680.3:c.2404G>T MANE Select	NP_542411.2:p.Gly802Cys
NM_080681.3:c.2146G>T	NP_542412.2:p.Gly716Cys
NM_080679.3:c.2083G>T	NP_542410.2:p.Gly695Cys