Canonical Allele Identifier: CA363617545

Gene: COL11A2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.623C>T
ENST00000341947.7:c.4817C>T MANE Select	ENSP00000339915.2:p.Thr1606Ile
ENST00000341947.6:c.4817C>T	ENSP00000339915.2:p.Thr1606Ile
ENST00000361917.5:c.4496C>T	ENSP00000355123.1:p.Thr1499Ile
ENST00000374708.8:c.4559C>T	ENSP00000363840.4:p.Thr1520Ile
ENST00000477772.1:n.607C>T
NM_080679.2:c.4496C>T	NP_542410.2:p.Thr1499Ile
NM_080680.2:c.4817C>T	NP_542411.2:p.Thr1606Ile
NM_080681.2:c.4559C>T	NP_542412.2:p.Thr1520Ile
XM_011514298.1:c.3971C>T	XP_011512600.1:p.Thr1324Ile
XM_011514299.1:c.4103C>T	XP_011512601.1:p.Thr1368Ile
XM_011514300.1:c.3923C>T	XP_011512602.1:p.Thr1308Ile
XM_011514301.1:c.3860C>T	XP_011512603.1:p.Thr1287Ile
XM_011514302.1:c.3704C>T	XP_011512604.1:p.Thr1235Ile
XM_011514299.2:c.4103C>T	XP_011512601.1:p.Thr1368Ile
XM_011514300.2:c.3923C>T	XP_011512602.1:p.Thr1308Ile
XM_011514302.2:c.3704C>T	XP_011512604.1:p.Thr1235Ile
XM_017010250.1:c.4817C>T	XP_016865739.1:p.Thr1606Ile
XM_017010251.2:c.3635C>T	XP_016865740.1:p.Thr1212Ile
NM_080680.3:c.4817C>T MANE Select	NP_542411.2:p.Thr1606Ile
NM_080681.3:c.4559C>T	NP_542412.2:p.Thr1520Ile
NM_080679.3:c.4496C>T	NP_542410.2:p.Thr1499Ile