Canonical Allele Identifier: CA363628134

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33137266C>T (hg19) ; chr6:g.33169489C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169489C>T , CM000668.2:g.33169489C>T	GRCh38
NC_000006.11:g.33137266C>T , CM000668.1:g.33137266C>T	GRCh37
NC_000006.10:g.33245244C>T	NCBI36
NG_011589.1:g.27980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3692G>A MANE Select	ENSP00000339915.2:p.Gly1231Asp
ENST00000341947.6:c.3692G>A	ENSP00000339915.2:p.Gly1231Asp
ENST00000361917.5:c.3371G>A	ENSP00000355123.1:p.Gly1124Asp
ENST00000374708.8:c.3434G>A	ENSP00000363840.4:p.Gly1145Asp
ENST00000477772.1:n.273-3673G>A
NM_080679.2:c.3371G>A	NP_542410.2:p.Gly1124Asp
NM_080680.2:c.3692G>A	NP_542411.2:p.Gly1231Asp
NM_080681.2:c.3434G>A	NP_542412.2:p.Gly1145Asp
XM_011514298.1:c.2846G>A	XP_011512600.1:p.Gly949Asp
XM_011514299.1:c.2978G>A	XP_011512601.1:p.Gly993Asp
XM_011514300.1:c.2798G>A	XP_011512602.1:p.Gly933Asp
XM_011514301.1:c.2735G>A	XP_011512603.1:p.Gly912Asp
XM_011514302.1:c.2579G>A	XP_011512604.1:p.Gly860Asp
XM_011514299.2:c.2978G>A	XP_011512601.1:p.Gly993Asp
XM_011514300.2:c.2798G>A	XP_011512602.1:p.Gly933Asp
XM_011514302.2:c.2579G>A	XP_011512604.1:p.Gly860Asp
XM_017010250.1:c.3692G>A	XP_016865739.1:p.Gly1231Asp
XM_017010251.2:c.2510G>A	XP_016865740.1:p.Gly837Asp
NM_080680.3:c.3692G>A MANE Select	NP_542411.2:p.Gly1231Asp
NM_080681.3:c.3434G>A	NP_542412.2:p.Gly1145Asp
NM_080679.3:c.3371G>A	NP_542410.2:p.Gly1124Asp