Canonical Allele Identifier: CA363617387

Gene: COL11A2

Linked Data

• dbSNP Id: rs550977861
• gnomAD v2: 6-33132636-A-T
• MyVariant Identifiers: chr6:g.33132636A>T (hg19) ; chr6:g.33164859A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164859A>T , CM000668.2:g.33164859A>T	GRCh38
NC_000006.11:g.33132636A>T , CM000668.1:g.33132636A>T	GRCh37
NC_000006.10:g.33240614A>T	NCBI36
NG_011589.1:g.32610T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.662T>A
ENST00000341947.7:c.4856T>A MANE Select	ENSP00000339915.2:p.Val1619Asp
ENST00000341947.6:c.4856T>A	ENSP00000339915.2:p.Val1619Asp
ENST00000361917.5:c.4535T>A	ENSP00000355123.1:p.Val1512Asp
ENST00000374708.8:c.4598T>A	ENSP00000363840.4:p.Val1533Asp
ENST00000477772.1:n.646T>A
NM_080679.2:c.4535T>A	NP_542410.2:p.Val1512Asp
NM_080680.2:c.4856T>A	NP_542411.2:p.Val1619Asp
NM_080681.2:c.4598T>A	NP_542412.2:p.Val1533Asp
XM_011514298.1:c.4010T>A	XP_011512600.1:p.Val1337Asp
XM_011514299.1:c.4142T>A	XP_011512601.1:p.Val1381Asp
XM_011514300.1:c.3962T>A	XP_011512602.1:p.Val1321Asp
XM_011514301.1:c.3899T>A	XP_011512603.1:p.Val1300Asp
XM_011514302.1:c.3743T>A	XP_011512604.1:p.Val1248Asp
XM_011514299.2:c.4142T>A	XP_011512601.1:p.Val1381Asp
XM_011514300.2:c.3962T>A	XP_011512602.1:p.Val1321Asp
XM_011514302.2:c.3743T>A	XP_011512604.1:p.Val1248Asp
XM_017010250.1:c.4856T>A	XP_016865739.1:p.Val1619Asp
XM_017010251.2:c.3674T>A	XP_016865740.1:p.Val1225Asp
NM_080680.3:c.4856T>A MANE Select	NP_542411.2:p.Val1619Asp
NM_080681.3:c.4598T>A	NP_542412.2:p.Val1533Asp
NM_080679.3:c.4535T>A	NP_542410.2:p.Val1512Asp