Canonical Allele Identifier: CA363616505

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164433-A-T
• MyVariant Identifiers: chr6:g.33132210A>T (hg19) ; chr6:g.33164433A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164433A>T , CM000668.2:g.33164433A>T	GRCh38
NC_000006.11:g.33132210A>T , CM000668.1:g.33132210A>T	GRCh37
NC_000006.10:g.33240188A>T	NCBI36
NG_011589.1:g.33036T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.710T>A
ENST00000341947.7:c.4904T>A MANE Select	ENSP00000339915.2:p.Val1635Asp
ENST00000341947.6:c.4904T>A	ENSP00000339915.2:p.Val1635Asp
ENST00000361917.5:c.4583T>A	ENSP00000355123.1:p.Val1528Asp
ENST00000374708.8:c.4646T>A	ENSP00000363840.4:p.Val1549Asp
ENST00000477772.1:n.694T>A
NM_080679.2:c.4583T>A	NP_542410.2:p.Val1528Asp
NM_080680.2:c.4904T>A	NP_542411.2:p.Val1635Asp
NM_080681.2:c.4646T>A	NP_542412.2:p.Val1549Asp
XM_011514298.1:c.4058T>A	XP_011512600.1:p.Val1353Asp
XM_011514299.1:c.4190T>A	XP_011512601.1:p.Val1397Asp
XM_011514300.1:c.4010T>A	XP_011512602.1:p.Val1337Asp
XM_011514301.1:c.3947T>A	XP_011512603.1:p.Val1316Asp
XM_011514302.1:c.3791T>A	XP_011512604.1:p.Val1264Asp
XM_011514299.2:c.4190T>A	XP_011512601.1:p.Val1397Asp
XM_011514300.2:c.4010T>A	XP_011512602.1:p.Val1337Asp
XM_011514302.2:c.3791T>A	XP_011512604.1:p.Val1264Asp
XM_017010250.1:c.4904T>A	XP_016865739.1:p.Val1635Asp
XM_017010251.2:c.3722T>A	XP_016865740.1:p.Val1241Asp
NM_080680.3:c.4904T>A MANE Select	NP_542411.2:p.Val1635Asp
NM_080681.3:c.4646T>A	NP_542412.2:p.Val1549Asp
NM_080679.3:c.4583T>A	NP_542410.2:p.Val1528Asp