Canonical Allele Identifier: CA363616508

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164434-C-A
• MyVariant Identifiers: chr6:g.33132211C>A (hg19) ; chr6:g.33164434C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.709G>T
ENST00000341947.7:c.4903G>T MANE Select	ENSP00000339915.2:p.Val1635Phe
ENST00000341947.6:c.4903G>T	ENSP00000339915.2:p.Val1635Phe
ENST00000361917.5:c.4582G>T	ENSP00000355123.1:p.Val1528Phe
ENST00000374708.8:c.4645G>T	ENSP00000363840.4:p.Val1549Phe
ENST00000477772.1:n.693G>T
NM_080679.2:c.4582G>T	NP_542410.2:p.Val1528Phe
NM_080680.2:c.4903G>T	NP_542411.2:p.Val1635Phe
NM_080681.2:c.4645G>T	NP_542412.2:p.Val1549Phe
XM_011514298.1:c.4057G>T	XP_011512600.1:p.Val1353Phe
XM_011514299.1:c.4189G>T	XP_011512601.1:p.Val1397Phe
XM_011514300.1:c.4009G>T	XP_011512602.1:p.Val1337Phe
XM_011514301.1:c.3946G>T	XP_011512603.1:p.Val1316Phe
XM_011514302.1:c.3790G>T	XP_011512604.1:p.Val1264Phe
XM_011514299.2:c.4189G>T	XP_011512601.1:p.Val1397Phe
XM_011514300.2:c.4009G>T	XP_011512602.1:p.Val1337Phe
XM_011514302.2:c.3790G>T	XP_011512604.1:p.Val1264Phe
XM_017010250.1:c.4903G>T	XP_016865739.1:p.Val1635Phe
XM_017010251.2:c.3721G>T	XP_016865740.1:p.Val1241Phe
NM_080680.3:c.4903G>T MANE Select	NP_542411.2:p.Val1635Phe
NM_080681.3:c.4645G>T	NP_542412.2:p.Val1549Phe
NM_080679.3:c.4582G>T	NP_542410.2:p.Val1528Phe