Canonical Allele Identifier: CA363616514

Gene: COL11A2

Linked Data

• dbSNP Id: rs1266619927
• gnomAD v2: 6-33132211-C-T
• MyVariant Identifiers: chr6:g.33132211C>T (hg19) ; chr6:g.33164434C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164434C>T , CM000668.2:g.33164434C>T	GRCh38
NC_000006.11:g.33132211C>T , CM000668.1:g.33132211C>T	GRCh37
NC_000006.10:g.33240189C>T	NCBI36
NG_011589.1:g.33035G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.709G>A
ENST00000341947.7:c.4903G>A MANE Select	ENSP00000339915.2:p.Val1635Ile
ENST00000341947.6:c.4903G>A	ENSP00000339915.2:p.Val1635Ile
ENST00000361917.5:c.4582G>A	ENSP00000355123.1:p.Val1528Ile
ENST00000374708.8:c.4645G>A	ENSP00000363840.4:p.Val1549Ile
ENST00000477772.1:n.693G>A
NM_080679.2:c.4582G>A	NP_542410.2:p.Val1528Ile
NM_080680.2:c.4903G>A	NP_542411.2:p.Val1635Ile
NM_080681.2:c.4645G>A	NP_542412.2:p.Val1549Ile
XM_011514298.1:c.4057G>A	XP_011512600.1:p.Val1353Ile
XM_011514299.1:c.4189G>A	XP_011512601.1:p.Val1397Ile
XM_011514300.1:c.4009G>A	XP_011512602.1:p.Val1337Ile
XM_011514301.1:c.3946G>A	XP_011512603.1:p.Val1316Ile
XM_011514302.1:c.3790G>A	XP_011512604.1:p.Val1264Ile
XM_011514299.2:c.4189G>A	XP_011512601.1:p.Val1397Ile
XM_011514300.2:c.4009G>A	XP_011512602.1:p.Val1337Ile
XM_011514302.2:c.3790G>A	XP_011512604.1:p.Val1264Ile
XM_017010250.1:c.4903G>A	XP_016865739.1:p.Val1635Ile
XM_017010251.2:c.3721G>A	XP_016865740.1:p.Val1241Ile
NM_080680.3:c.4903G>A MANE Select	NP_542411.2:p.Val1635Ile
NM_080681.3:c.4645G>A	NP_542412.2:p.Val1549Ile
NM_080679.3:c.4582G>A	NP_542410.2:p.Val1528Ile