Canonical Allele Identifier: CA363617401

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132639T>A (hg19) ; chr6:g.33164862T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164862T>A , CM000668.2:g.33164862T>A	GRCh38
NC_000006.11:g.33132639T>A , CM000668.1:g.33132639T>A	GRCh37
NC_000006.10:g.33240617T>A	NCBI36
NG_011589.1:g.32607A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.659A>T
ENST00000341947.7:c.4853A>T MANE Select	ENSP00000339915.2:p.Asp1618Val
ENST00000341947.6:c.4853A>T	ENSP00000339915.2:p.Asp1618Val
ENST00000361917.5:c.4532A>T	ENSP00000355123.1:p.Asp1511Val
ENST00000374708.8:c.4595A>T	ENSP00000363840.4:p.Asp1532Val
ENST00000477772.1:n.643A>T
NM_080679.2:c.4532A>T	NP_542410.2:p.Asp1511Val
NM_080680.2:c.4853A>T	NP_542411.2:p.Asp1618Val
NM_080681.2:c.4595A>T	NP_542412.2:p.Asp1532Val
XM_011514298.1:c.4007A>T	XP_011512600.1:p.Asp1336Val
XM_011514299.1:c.4139A>T	XP_011512601.1:p.Asp1380Val
XM_011514300.1:c.3959A>T	XP_011512602.1:p.Asp1320Val
XM_011514301.1:c.3896A>T	XP_011512603.1:p.Asp1299Val
XM_011514302.1:c.3740A>T	XP_011512604.1:p.Asp1247Val
XM_011514299.2:c.4139A>T	XP_011512601.1:p.Asp1380Val
XM_011514300.2:c.3959A>T	XP_011512602.1:p.Asp1320Val
XM_011514302.2:c.3740A>T	XP_011512604.1:p.Asp1247Val
XM_017010250.1:c.4853A>T	XP_016865739.1:p.Asp1618Val
XM_017010251.2:c.3671A>T	XP_016865740.1:p.Asp1224Val
NM_080680.3:c.4853A>T MANE Select	NP_542411.2:p.Asp1618Val
NM_080681.3:c.4595A>T	NP_542412.2:p.Asp1532Val
NM_080679.3:c.4532A>T	NP_542410.2:p.Asp1511Val