Canonical Allele Identifier: CA363617434

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2756983
• ClinVar RCV Id: RCV003567036
• MyVariant Identifiers: chr6:g.33132645C>T (hg19) ; chr6:g.33164868C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164868C>T , CM000668.2:g.33164868C>T	GRCh38
NC_000006.11:g.33132645C>T , CM000668.1:g.33132645C>T	GRCh37
NC_000006.10:g.33240623C>T	NCBI36
NG_011589.1:g.32601G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.653G>A
ENST00000341947.7:c.4847G>A MANE Select	ENSP00000339915.2:p.Arg1616Lys
ENST00000341947.6:c.4847G>A	ENSP00000339915.2:p.Arg1616Lys
ENST00000361917.5:c.4526G>A	ENSP00000355123.1:p.Arg1509Lys
ENST00000374708.8:c.4589G>A	ENSP00000363840.4:p.Arg1530Lys
ENST00000477772.1:n.637G>A
NM_080679.2:c.4526G>A	NP_542410.2:p.Arg1509Lys
NM_080680.2:c.4847G>A	NP_542411.2:p.Arg1616Lys
NM_080681.2:c.4589G>A	NP_542412.2:p.Arg1530Lys
XM_011514298.1:c.4001G>A	XP_011512600.1:p.Arg1334Lys
XM_011514299.1:c.4133G>A	XP_011512601.1:p.Arg1378Lys
XM_011514300.1:c.3953G>A	XP_011512602.1:p.Arg1318Lys
XM_011514301.1:c.3890G>A	XP_011512603.1:p.Arg1297Lys
XM_011514302.1:c.3734G>A	XP_011512604.1:p.Arg1245Lys
XM_011514299.2:c.4133G>A	XP_011512601.1:p.Arg1378Lys
XM_011514300.2:c.3953G>A	XP_011512602.1:p.Arg1318Lys
XM_011514302.2:c.3734G>A	XP_011512604.1:p.Arg1245Lys
XM_017010250.1:c.4847G>A	XP_016865739.1:p.Arg1616Lys
XM_017010251.2:c.3665G>A	XP_016865740.1:p.Arg1222Lys
NM_080680.3:c.4847G>A MANE Select	NP_542411.2:p.Arg1616Lys
NM_080681.3:c.4589G>A	NP_542412.2:p.Arg1530Lys
NM_080679.3:c.4526G>A	NP_542410.2:p.Arg1509Lys