Canonical Allele Identifier: CA363616336

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132172G>C (hg19) ; chr6:g.33164395G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.748C>G
ENST00000341947.7:c.4942C>G MANE Select	ENSP00000339915.2:p.His1648Asp
ENST00000341947.6:c.4942C>G	ENSP00000339915.2:p.His1648Asp
ENST00000361917.5:c.4621C>G	ENSP00000355123.1:p.His1541Asp
ENST00000374708.8:c.4684C>G	ENSP00000363840.4:p.His1562Asp
ENST00000477772.1:n.732C>G
NM_080679.2:c.4621C>G	NP_542410.2:p.His1541Asp
NM_080680.2:c.4942C>G	NP_542411.2:p.His1648Asp
NM_080681.2:c.4684C>G	NP_542412.2:p.His1562Asp
XM_011514298.1:c.4096C>G	XP_011512600.1:p.His1366Asp
XM_011514299.1:c.4228C>G	XP_011512601.1:p.His1410Asp
XM_011514300.1:c.4048C>G	XP_011512602.1:p.His1350Asp
XM_011514301.1:c.3985C>G	XP_011512603.1:p.His1329Asp
XM_011514302.1:c.3829C>G	XP_011512604.1:p.His1277Asp
XM_011514299.2:c.4228C>G	XP_011512601.1:p.His1410Asp
XM_011514300.2:c.4048C>G	XP_011512602.1:p.His1350Asp
XM_011514302.2:c.3829C>G	XP_011512604.1:p.His1277Asp
XM_017010250.1:c.4942C>G	XP_016865739.1:p.His1648Asp
XM_017010251.2:c.3760C>G	XP_016865740.1:p.His1254Asp
NM_080680.3:c.4942C>G MANE Select	NP_542411.2:p.His1648Asp
NM_080681.3:c.4684C>G	NP_542412.2:p.His1562Asp
NM_080679.3:c.4621C>G	NP_542410.2:p.His1541Asp