Canonical Allele Identifier: CA363617380

Gene: COL11A2

Linked Data

• dbSNP Id: rs763613565
• gnomAD v4: 6-33164856-G-T
• MyVariant Identifiers: chr6:g.33132633G>T (hg19) ; chr6:g.33164856G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164856G>T , CM000668.2:g.33164856G>T	GRCh38
NC_000006.11:g.33132633G>T , CM000668.1:g.33132633G>T	GRCh37
NC_000006.10:g.33240611G>T	NCBI36
NG_011589.1:g.32613C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.665C>A
ENST00000341947.7:c.4859C>A MANE Select	ENSP00000339915.2:p.Thr1620Lys
ENST00000341947.6:c.4859C>A	ENSP00000339915.2:p.Thr1620Lys
ENST00000361917.5:c.4538C>A	ENSP00000355123.1:p.Thr1513Lys
ENST00000374708.8:c.4601C>A	ENSP00000363840.4:p.Thr1534Lys
ENST00000477772.1:n.649C>A
NM_080679.2:c.4538C>A	NP_542410.2:p.Thr1513Lys
NM_080680.2:c.4859C>A	NP_542411.2:p.Thr1620Lys
NM_080681.2:c.4601C>A	NP_542412.2:p.Thr1534Lys
XM_011514298.1:c.4013C>A	XP_011512600.1:p.Thr1338Lys
XM_011514299.1:c.4145C>A	XP_011512601.1:p.Thr1382Lys
XM_011514300.1:c.3965C>A	XP_011512602.1:p.Thr1322Lys
XM_011514301.1:c.3902C>A	XP_011512603.1:p.Thr1301Lys
XM_011514302.1:c.3746C>A	XP_011512604.1:p.Thr1249Lys
XM_011514299.2:c.4145C>A	XP_011512601.1:p.Thr1382Lys
XM_011514300.2:c.3965C>A	XP_011512602.1:p.Thr1322Lys
XM_011514302.2:c.3746C>A	XP_011512604.1:p.Thr1249Lys
XM_017010250.1:c.4859C>A	XP_016865739.1:p.Thr1620Lys
XM_017010251.2:c.3677C>A	XP_016865740.1:p.Thr1226Lys
NM_080680.3:c.4859C>A MANE Select	NP_542411.2:p.Thr1620Lys
NM_080681.3:c.4601C>A	NP_542412.2:p.Thr1534Lys
NM_080679.3:c.4538C>A	NP_542410.2:p.Thr1513Lys