Canonical Allele Identifier: CA363616578

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164452-C-A
• MyVariant Identifiers: chr6:g.33132229C>A (hg19) ; chr6:g.33164452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164452C>A , CM000668.2:g.33164452C>A	GRCh38
NC_000006.11:g.33132229C>A , CM000668.1:g.33132229C>A	GRCh37
NC_000006.10:g.33240207C>A	NCBI36
NG_011589.1:g.33017G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.691G>T
ENST00000341947.7:c.4885G>T MANE Select	ENSP00000339915.2:p.Gly1629Cys
ENST00000341947.6:c.4885G>T	ENSP00000339915.2:p.Gly1629Cys
ENST00000361917.5:c.4564G>T	ENSP00000355123.1:p.Gly1522Cys
ENST00000374708.8:c.4627G>T	ENSP00000363840.4:p.Gly1543Cys
ENST00000477772.1:n.675G>T
NM_080679.2:c.4564G>T	NP_542410.2:p.Gly1522Cys
NM_080680.2:c.4885G>T	NP_542411.2:p.Gly1629Cys
NM_080681.2:c.4627G>T	NP_542412.2:p.Gly1543Cys
XM_011514298.1:c.4039G>T	XP_011512600.1:p.Gly1347Cys
XM_011514299.1:c.4171G>T	XP_011512601.1:p.Gly1391Cys
XM_011514300.1:c.3991G>T	XP_011512602.1:p.Gly1331Cys
XM_011514301.1:c.3928G>T	XP_011512603.1:p.Gly1310Cys
XM_011514302.1:c.3772G>T	XP_011512604.1:p.Gly1258Cys
XM_011514299.2:c.4171G>T	XP_011512601.1:p.Gly1391Cys
XM_011514300.2:c.3991G>T	XP_011512602.1:p.Gly1331Cys
XM_011514302.2:c.3772G>T	XP_011512604.1:p.Gly1258Cys
XM_017010250.1:c.4885G>T	XP_016865739.1:p.Gly1629Cys
XM_017010251.2:c.3703G>T	XP_016865740.1:p.Gly1235Cys
NM_080680.3:c.4885G>T MANE Select	NP_542411.2:p.Gly1629Cys
NM_080681.3:c.4627G>T	NP_542412.2:p.Gly1543Cys
NM_080679.3:c.4564G>T	NP_542410.2:p.Gly1522Cys