Canonical Allele Identifier: CA363616335

Gene: COL11A2

Linked Data

• dbSNP Id: rs1193583129
• gnomAD v2: 6-33132172-G-A
• gnomAD v4: 6-33164395-G-A
• MyVariant Identifiers: chr6:g.33132172G>A (hg19) ; chr6:g.33164395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164395G>A , CM000668.2:g.33164395G>A	GRCh38
NC_000006.11:g.33132172G>A , CM000668.1:g.33132172G>A	GRCh37
NC_000006.10:g.33240150G>A	NCBI36
NG_011589.1:g.33074C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.748C>T
ENST00000341947.7:c.4942C>T MANE Select	ENSP00000339915.2:p.His1648Tyr
ENST00000341947.6:c.4942C>T	ENSP00000339915.2:p.His1648Tyr
ENST00000361917.5:c.4621C>T	ENSP00000355123.1:p.His1541Tyr
ENST00000374708.8:c.4684C>T	ENSP00000363840.4:p.His1562Tyr
ENST00000477772.1:n.732C>T
NM_080679.2:c.4621C>T	NP_542410.2:p.His1541Tyr
NM_080680.2:c.4942C>T	NP_542411.2:p.His1648Tyr
NM_080681.2:c.4684C>T	NP_542412.2:p.His1562Tyr
XM_011514298.1:c.4096C>T	XP_011512600.1:p.His1366Tyr
XM_011514299.1:c.4228C>T	XP_011512601.1:p.His1410Tyr
XM_011514300.1:c.4048C>T	XP_011512602.1:p.His1350Tyr
XM_011514301.1:c.3985C>T	XP_011512603.1:p.His1329Tyr
XM_011514302.1:c.3829C>T	XP_011512604.1:p.His1277Tyr
XM_011514299.2:c.4228C>T	XP_011512601.1:p.His1410Tyr
XM_011514300.2:c.4048C>T	XP_011512602.1:p.His1350Tyr
XM_011514302.2:c.3829C>T	XP_011512604.1:p.His1277Tyr
XM_017010250.1:c.4942C>T	XP_016865739.1:p.His1648Tyr
XM_017010251.2:c.3760C>T	XP_016865740.1:p.His1254Tyr
NM_080680.3:c.4942C>T MANE Select	NP_542411.2:p.His1648Tyr
NM_080681.3:c.4684C>T	NP_542412.2:p.His1562Tyr
NM_080679.3:c.4621C>T	NP_542410.2:p.His1541Tyr