Canonical Allele Identifier: CA363617727

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164937-C-T
• MyVariant Identifiers: chr6:g.33132714C>T (hg19) ; chr6:g.33164937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164937C>T , CM000668.2:g.33164937C>T	GRCh38
NC_000006.11:g.33132714C>T , CM000668.1:g.33132714C>T	GRCh37
NC_000006.10:g.33240692C>T	NCBI36
NG_011589.1:g.32532G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.584G>A
ENST00000341947.7:c.4778G>A MANE Select	ENSP00000339915.2:p.Gly1593Asp
ENST00000341947.6:c.4778G>A	ENSP00000339915.2:p.Gly1593Asp
ENST00000361917.5:c.4457G>A	ENSP00000355123.1:p.Gly1486Asp
ENST00000374708.8:c.4520G>A	ENSP00000363840.4:p.Gly1507Asp
ENST00000477772.1:n.568G>A
NM_080679.2:c.4457G>A	NP_542410.2:p.Gly1486Asp
NM_080680.2:c.4778G>A	NP_542411.2:p.Gly1593Asp
NM_080681.2:c.4520G>A	NP_542412.2:p.Gly1507Asp
XM_011514298.1:c.3932G>A	XP_011512600.1:p.Gly1311Asp
XM_011514299.1:c.4064G>A	XP_011512601.1:p.Gly1355Asp
XM_011514300.1:c.3884G>A	XP_011512602.1:p.Gly1295Asp
XM_011514301.1:c.3821G>A	XP_011512603.1:p.Gly1274Asp
XM_011514302.1:c.3665G>A	XP_011512604.1:p.Gly1222Asp
XM_011514299.2:c.4064G>A	XP_011512601.1:p.Gly1355Asp
XM_011514300.2:c.3884G>A	XP_011512602.1:p.Gly1295Asp
XM_011514302.2:c.3665G>A	XP_011512604.1:p.Gly1222Asp
XM_017010250.1:c.4778G>A	XP_016865739.1:p.Gly1593Asp
XM_017010251.2:c.3596G>A	XP_016865740.1:p.Gly1199Asp
NM_080680.3:c.4778G>A MANE Select	NP_542411.2:p.Gly1593Asp
NM_080681.3:c.4520G>A	NP_542412.2:p.Gly1507Asp
NM_080679.3:c.4457G>A	NP_542410.2:p.Gly1486Asp