Canonical Allele Identifier: CA363617623

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132690A>T (hg19) ; chr6:g.33164913A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164913A>T , CM000668.2:g.33164913A>T	GRCh38
NC_000006.11:g.33132690A>T , CM000668.1:g.33132690A>T	GRCh37
NC_000006.10:g.33240668A>T	NCBI36
NG_011589.1:g.32556T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.608T>A
ENST00000341947.7:c.4802T>A MANE Select	ENSP00000339915.2:p.Val1601Asp
ENST00000341947.6:c.4802T>A	ENSP00000339915.2:p.Val1601Asp
ENST00000361917.5:c.4481T>A	ENSP00000355123.1:p.Val1494Asp
ENST00000374708.8:c.4544T>A	ENSP00000363840.4:p.Val1515Asp
ENST00000477772.1:n.592T>A
NM_080679.2:c.4481T>A	NP_542410.2:p.Val1494Asp
NM_080680.2:c.4802T>A	NP_542411.2:p.Val1601Asp
NM_080681.2:c.4544T>A	NP_542412.2:p.Val1515Asp
XM_011514298.1:c.3956T>A	XP_011512600.1:p.Val1319Asp
XM_011514299.1:c.4088T>A	XP_011512601.1:p.Val1363Asp
XM_011514300.1:c.3908T>A	XP_011512602.1:p.Val1303Asp
XM_011514301.1:c.3845T>A	XP_011512603.1:p.Val1282Asp
XM_011514302.1:c.3689T>A	XP_011512604.1:p.Val1230Asp
XM_011514299.2:c.4088T>A	XP_011512601.1:p.Val1363Asp
XM_011514300.2:c.3908T>A	XP_011512602.1:p.Val1303Asp
XM_011514302.2:c.3689T>A	XP_011512604.1:p.Val1230Asp
XM_017010250.1:c.4802T>A	XP_016865739.1:p.Val1601Asp
XM_017010251.2:c.3620T>A	XP_016865740.1:p.Val1207Asp
NM_080680.3:c.4802T>A MANE Select	NP_542411.2:p.Val1601Asp
NM_080681.3:c.4544T>A	NP_542412.2:p.Val1515Asp
NM_080679.3:c.4481T>A	NP_542410.2:p.Val1494Asp