Canonical Allele Identifier: CA449867061

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2851560
• ClinVar RCV Id: RCV003691206
• MyVariant Identifiers: chr6:g.33132212C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164435C>T , CM000668.2:g.33164435C>T	GRCh38
NC_000006.11:g.33132212C>T , CM000668.1:g.33132212C>T	GRCh37
NC_000006.10:g.33240190C>T	NCBI36
NG_011589.1:g.33034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.708G>A
ENST00000341947.7:c.4902G>A MANE Select	ENSP00000339915.2:p.Val1634=
ENST00000341947.6:c.4902G>A	ENSP00000339915.2:p.Val1634=
ENST00000361917.5:c.4581G>A	ENSP00000355123.1:p.Val1527=
ENST00000374708.8:c.4644G>A	ENSP00000363840.4:p.Val1548=
ENST00000477772.1:n.692G>A
NM_080679.2:c.4581G>A	NP_542410.2:p.Val1527=
NM_080680.2:c.4902G>A	NP_542411.2:p.Val1634=
NM_080681.2:c.4644G>A	NP_542412.2:p.Val1548=
XM_011514298.1:c.4056G>A	XP_011512600.1:p.Val1352=
XM_011514299.1:c.4188G>A	XP_011512601.1:p.Val1396=
XM_011514300.1:c.4008G>A	XP_011512602.1:p.Val1336=
XM_011514301.1:c.3945G>A	XP_011512603.1:p.Val1315=
XM_011514302.1:c.3789G>A	XP_011512604.1:p.Val1263=
XM_011514299.2:c.4188G>A	XP_011512601.1:p.Val1396=
XM_011514300.2:c.4008G>A	XP_011512602.1:p.Val1336=
XM_011514302.2:c.3789G>A	XP_011512604.1:p.Val1263=
XM_017010250.1:c.4902G>A	XP_016865739.1:p.Val1634=
XM_017010251.2:c.3720G>A	XP_016865740.1:p.Val1240=
NM_080680.3:c.4902G>A MANE Select	NP_542411.2:p.Val1634=
NM_080681.3:c.4644G>A	NP_542412.2:p.Val1548=
NM_080679.3:c.4581G>A	NP_542410.2:p.Val1527=