Canonical Allele Identifier: CA363617702

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164932-C-T
• MyVariant Identifiers: chr6:g.33132709C>T (hg19) ; chr6:g.33164932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164932C>T , CM000668.2:g.33164932C>T	GRCh38
NC_000006.11:g.33132709C>T , CM000668.1:g.33132709C>T	GRCh37
NC_000006.10:g.33240687C>T	NCBI36
NG_011589.1:g.32537G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.589G>A
ENST00000341947.7:c.4783G>A MANE Select	ENSP00000339915.2:p.Ala1595Thr
ENST00000341947.6:c.4783G>A	ENSP00000339915.2:p.Ala1595Thr
ENST00000361917.5:c.4462G>A	ENSP00000355123.1:p.Ala1488Thr
ENST00000374708.8:c.4525G>A	ENSP00000363840.4:p.Ala1509Thr
ENST00000477772.1:n.573G>A
NM_080679.2:c.4462G>A	NP_542410.2:p.Ala1488Thr
NM_080680.2:c.4783G>A	NP_542411.2:p.Ala1595Thr
NM_080681.2:c.4525G>A	NP_542412.2:p.Ala1509Thr
XM_011514298.1:c.3937G>A	XP_011512600.1:p.Ala1313Thr
XM_011514299.1:c.4069G>A	XP_011512601.1:p.Ala1357Thr
XM_011514300.1:c.3889G>A	XP_011512602.1:p.Ala1297Thr
XM_011514301.1:c.3826G>A	XP_011512603.1:p.Ala1276Thr
XM_011514302.1:c.3670G>A	XP_011512604.1:p.Ala1224Thr
XM_011514299.2:c.4069G>A	XP_011512601.1:p.Ala1357Thr
XM_011514300.2:c.3889G>A	XP_011512602.1:p.Ala1297Thr
XM_011514302.2:c.3670G>A	XP_011512604.1:p.Ala1224Thr
XM_017010250.1:c.4783G>A	XP_016865739.1:p.Ala1595Thr
XM_017010251.2:c.3601G>A	XP_016865740.1:p.Ala1201Thr
NM_080680.3:c.4783G>A MANE Select	NP_542411.2:p.Ala1595Thr
NM_080681.3:c.4525G>A	NP_542412.2:p.Ala1509Thr
NM_080679.3:c.4462G>A	NP_542410.2:p.Ala1488Thr