Canonical Allele Identifier: CA363616175

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132142C>T (hg19) ; chr6:g.33164365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164365C>T , CM000668.2:g.33164365C>T	GRCh38
NC_000006.11:g.33132142C>T , CM000668.1:g.33132142C>T	GRCh37
NC_000006.10:g.33240120C>T	NCBI36
NG_011589.1:g.33104G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.778G>A
ENST00000341947.7:c.4972G>A MANE Select	ENSP00000339915.2:p.Ala1658Thr
ENST00000341947.6:c.4972G>A	ENSP00000339915.2:p.Ala1658Thr
ENST00000361917.5:c.4651G>A	ENSP00000355123.1:p.Ala1551Thr
ENST00000374708.8:c.4714G>A	ENSP00000363840.4:p.Ala1572Thr
ENST00000477772.1:n.762G>A
NM_080679.2:c.4651G>A	NP_542410.2:p.Ala1551Thr
NM_080680.2:c.4972G>A	NP_542411.2:p.Ala1658Thr
NM_080681.2:c.4714G>A	NP_542412.2:p.Ala1572Thr
XM_011514298.1:c.4126G>A	XP_011512600.1:p.Ala1376Thr
XM_011514299.1:c.4258G>A	XP_011512601.1:p.Ala1420Thr
XM_011514300.1:c.4078G>A	XP_011512602.1:p.Ala1360Thr
XM_011514301.1:c.4015G>A	XP_011512603.1:p.Ala1339Thr
XM_011514302.1:c.3859G>A	XP_011512604.1:p.Ala1287Thr
XM_011514299.2:c.4258G>A	XP_011512601.1:p.Ala1420Thr
XM_011514300.2:c.4078G>A	XP_011512602.1:p.Ala1360Thr
XM_011514302.2:c.3859G>A	XP_011512604.1:p.Ala1287Thr
XM_017010250.1:c.4972G>A	XP_016865739.1:p.Ala1658Thr
XM_017010251.2:c.3790G>A	XP_016865740.1:p.Ala1264Thr
NM_080680.3:c.4972G>A MANE Select	NP_542411.2:p.Ala1658Thr
NM_080681.3:c.4714G>A	NP_542412.2:p.Ala1572Thr
NM_080679.3:c.4651G>A	NP_542410.2:p.Ala1551Thr