Canonical Allele Identifier: CA363617466

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164879-A-T
• MyVariant Identifiers: chr6:g.33132656A>T (hg19) ; chr6:g.33164879A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164879A>T , CM000668.2:g.33164879A>T	GRCh38
NC_000006.11:g.33132656A>T , CM000668.1:g.33132656A>T	GRCh37
NC_000006.10:g.33240634A>T	NCBI36
NG_011589.1:g.32590T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.642T>A
ENST00000341947.7:c.4836T>A MANE Select	ENSP00000339915.2:p.Cys1612Ter
ENST00000341947.6:c.4836T>A	ENSP00000339915.2:p.Cys1612Ter
ENST00000361917.5:c.4515T>A	ENSP00000355123.1:p.Cys1505Ter
ENST00000374708.8:c.4578T>A	ENSP00000363840.4:p.Cys1526Ter
ENST00000477772.1:n.626T>A
NM_080679.2:c.4515T>A	NP_542410.2:p.Cys1505Ter
NM_080680.2:c.4836T>A	NP_542411.2:p.Cys1612Ter
NM_080681.2:c.4578T>A	NP_542412.2:p.Cys1526Ter
XM_011514298.1:c.3990T>A	XP_011512600.1:p.Cys1330Ter
XM_011514299.1:c.4122T>A	XP_011512601.1:p.Cys1374Ter
XM_011514300.1:c.3942T>A	XP_011512602.1:p.Cys1314Ter
XM_011514301.1:c.3879T>A	XP_011512603.1:p.Cys1293Ter
XM_011514302.1:c.3723T>A	XP_011512604.1:p.Cys1241Ter
XM_011514299.2:c.4122T>A	XP_011512601.1:p.Cys1374Ter
XM_011514300.2:c.3942T>A	XP_011512602.1:p.Cys1314Ter
XM_011514302.2:c.3723T>A	XP_011512604.1:p.Cys1241Ter
XM_017010250.1:c.4836T>A	XP_016865739.1:p.Cys1612Ter
XM_017010251.2:c.3654T>A	XP_016865740.1:p.Cys1218Ter
NM_080680.3:c.4836T>A MANE Select	NP_542411.2:p.Cys1612Ter
NM_080681.3:c.4578T>A	NP_542412.2:p.Cys1526Ter
NM_080679.3:c.4515T>A	NP_542410.2:p.Cys1505Ter