Canonical Allele Identifier: CA449867037

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2763766
• ClinVar RCV Id: RCV003565264
• MyVariant Identifiers: chr6:g.33132191C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164414C>T , CM000668.2:g.33164414C>T	GRCh38
NC_000006.11:g.33132191C>T , CM000668.1:g.33132191C>T	GRCh37
NC_000006.10:g.33240169C>T	NCBI36
NG_011589.1:g.33055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.729G>A
ENST00000341947.7:c.4923G>A MANE Select	ENSP00000339915.2:p.Arg1641=
ENST00000341947.6:c.4923G>A	ENSP00000339915.2:p.Arg1641=
ENST00000361917.5:c.4602G>A	ENSP00000355123.1:p.Arg1534=
ENST00000374708.8:c.4665G>A	ENSP00000363840.4:p.Arg1555=
ENST00000477772.1:n.713G>A
NM_080679.2:c.4602G>A	NP_542410.2:p.Arg1534=
NM_080680.2:c.4923G>A	NP_542411.2:p.Arg1641=
NM_080681.2:c.4665G>A	NP_542412.2:p.Arg1555=
XM_011514298.1:c.4077G>A	XP_011512600.1:p.Arg1359=
XM_011514299.1:c.4209G>A	XP_011512601.1:p.Arg1403=
XM_011514300.1:c.4029G>A	XP_011512602.1:p.Arg1343=
XM_011514301.1:c.3966G>A	XP_011512603.1:p.Arg1322=
XM_011514302.1:c.3810G>A	XP_011512604.1:p.Arg1270=
XM_011514299.2:c.4209G>A	XP_011512601.1:p.Arg1403=
XM_011514300.2:c.4029G>A	XP_011512602.1:p.Arg1343=
XM_011514302.2:c.3810G>A	XP_011512604.1:p.Arg1270=
XM_017010250.1:c.4923G>A	XP_016865739.1:p.Arg1641=
XM_017010251.2:c.3741G>A	XP_016865740.1:p.Arg1247=
NM_080680.3:c.4923G>A MANE Select	NP_542411.2:p.Arg1641=
NM_080681.3:c.4665G>A	NP_542412.2:p.Arg1555=
NM_080679.3:c.4602G>A	NP_542410.2:p.Arg1534=