Canonical Allele Identifier: CA363617656

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164922-G-A
• MyVariant Identifiers: chr6:g.33132699G>A (hg19) ; chr6:g.33164922G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164922G>A , CM000668.2:g.33164922G>A	GRCh38
NC_000006.11:g.33132699G>A , CM000668.1:g.33132699G>A	GRCh37
NC_000006.10:g.33240677G>A	NCBI36
NG_011589.1:g.32547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.599C>T
ENST00000341947.7:c.4793C>T MANE Select	ENSP00000339915.2:p.Ala1598Val
ENST00000341947.6:c.4793C>T	ENSP00000339915.2:p.Ala1598Val
ENST00000361917.5:c.4472C>T	ENSP00000355123.1:p.Ala1491Val
ENST00000374708.8:c.4535C>T	ENSP00000363840.4:p.Ala1512Val
ENST00000477772.1:n.583C>T
NM_080679.2:c.4472C>T	NP_542410.2:p.Ala1491Val
NM_080680.2:c.4793C>T	NP_542411.2:p.Ala1598Val
NM_080681.2:c.4535C>T	NP_542412.2:p.Ala1512Val
XM_011514298.1:c.3947C>T	XP_011512600.1:p.Ala1316Val
XM_011514299.1:c.4079C>T	XP_011512601.1:p.Ala1360Val
XM_011514300.1:c.3899C>T	XP_011512602.1:p.Ala1300Val
XM_011514301.1:c.3836C>T	XP_011512603.1:p.Ala1279Val
XM_011514302.1:c.3680C>T	XP_011512604.1:p.Ala1227Val
XM_011514299.2:c.4079C>T	XP_011512601.1:p.Ala1360Val
XM_011514300.2:c.3899C>T	XP_011512602.1:p.Ala1300Val
XM_011514302.2:c.3680C>T	XP_011512604.1:p.Ala1227Val
XM_017010250.1:c.4793C>T	XP_016865739.1:p.Ala1598Val
XM_017010251.2:c.3611C>T	XP_016865740.1:p.Ala1204Val
NM_080680.3:c.4793C>T MANE Select	NP_542411.2:p.Ala1598Val
NM_080681.3:c.4535C>T	NP_542412.2:p.Ala1512Val
NM_080679.3:c.4472C>T	NP_542410.2:p.Ala1491Val