Canonical Allele Identifier: CA363617543

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164898-G-T
• MyVariant Identifiers: chr6:g.33132675G>T (hg19) ; chr6:g.33164898G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164898G>T , CM000668.2:g.33164898G>T	GRCh38
NC_000006.11:g.33132675G>T , CM000668.1:g.33132675G>T	GRCh37
NC_000006.10:g.33240653G>T	NCBI36
NG_011589.1:g.32571C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.623C>A
ENST00000341947.7:c.4817C>A MANE Select	ENSP00000339915.2:p.Thr1606Lys
ENST00000341947.6:c.4817C>A	ENSP00000339915.2:p.Thr1606Lys
ENST00000361917.5:c.4496C>A	ENSP00000355123.1:p.Thr1499Lys
ENST00000374708.8:c.4559C>A	ENSP00000363840.4:p.Thr1520Lys
ENST00000477772.1:n.607C>A
NM_080679.2:c.4496C>A	NP_542410.2:p.Thr1499Lys
NM_080680.2:c.4817C>A	NP_542411.2:p.Thr1606Lys
NM_080681.2:c.4559C>A	NP_542412.2:p.Thr1520Lys
XM_011514298.1:c.3971C>A	XP_011512600.1:p.Thr1324Lys
XM_011514299.1:c.4103C>A	XP_011512601.1:p.Thr1368Lys
XM_011514300.1:c.3923C>A	XP_011512602.1:p.Thr1308Lys
XM_011514301.1:c.3860C>A	XP_011512603.1:p.Thr1287Lys
XM_011514302.1:c.3704C>A	XP_011512604.1:p.Thr1235Lys
XM_011514299.2:c.4103C>A	XP_011512601.1:p.Thr1368Lys
XM_011514300.2:c.3923C>A	XP_011512602.1:p.Thr1308Lys
XM_011514302.2:c.3704C>A	XP_011512604.1:p.Thr1235Lys
XM_017010250.1:c.4817C>A	XP_016865739.1:p.Thr1606Lys
XM_017010251.2:c.3635C>A	XP_016865740.1:p.Thr1212Lys
NM_080680.3:c.4817C>A MANE Select	NP_542411.2:p.Thr1606Lys
NM_080681.3:c.4559C>A	NP_542412.2:p.Thr1520Lys
NM_080679.3:c.4496C>A	NP_542410.2:p.Thr1499Lys