Canonical Allele Identifier: CA363617438

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132646T>A (hg19) ; chr6:g.33164869T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164869T>A , CM000668.2:g.33164869T>A	GRCh38
NC_000006.11:g.33132646T>A , CM000668.1:g.33132646T>A	GRCh37
NC_000006.10:g.33240624T>A	NCBI36
NG_011589.1:g.32600A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.652A>T
ENST00000341947.7:c.4846A>T MANE Select	ENSP00000339915.2:p.Arg1616Trp
ENST00000341947.6:c.4846A>T	ENSP00000339915.2:p.Arg1616Trp
ENST00000361917.5:c.4525A>T	ENSP00000355123.1:p.Arg1509Trp
ENST00000374708.8:c.4588A>T	ENSP00000363840.4:p.Arg1530Trp
ENST00000477772.1:n.636A>T
NM_080679.2:c.4525A>T	NP_542410.2:p.Arg1509Trp
NM_080680.2:c.4846A>T	NP_542411.2:p.Arg1616Trp
NM_080681.2:c.4588A>T	NP_542412.2:p.Arg1530Trp
XM_011514298.1:c.4000A>T	XP_011512600.1:p.Arg1334Trp
XM_011514299.1:c.4132A>T	XP_011512601.1:p.Arg1378Trp
XM_011514300.1:c.3952A>T	XP_011512602.1:p.Arg1318Trp
XM_011514301.1:c.3889A>T	XP_011512603.1:p.Arg1297Trp
XM_011514302.1:c.3733A>T	XP_011512604.1:p.Arg1245Trp
XM_011514299.2:c.4132A>T	XP_011512601.1:p.Arg1378Trp
XM_011514300.2:c.3952A>T	XP_011512602.1:p.Arg1318Trp
XM_011514302.2:c.3733A>T	XP_011512604.1:p.Arg1245Trp
XM_017010250.1:c.4846A>T	XP_016865739.1:p.Arg1616Trp
XM_017010251.2:c.3664A>T	XP_016865740.1:p.Arg1222Trp
NM_080680.3:c.4846A>T MANE Select	NP_542411.2:p.Arg1616Trp
NM_080681.3:c.4588A>T	NP_542412.2:p.Arg1530Trp
NM_080679.3:c.4525A>T	NP_542410.2:p.Arg1509Trp