Canonical Allele Identifier: CA363616333

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164394-T-G
• MyVariant Identifiers: chr6:g.33132171T>G (hg19) ; chr6:g.33164394T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164394T>G , CM000668.2:g.33164394T>G	GRCh38
NC_000006.11:g.33132171T>G , CM000668.1:g.33132171T>G	GRCh37
NC_000006.10:g.33240149T>G	NCBI36
NG_011589.1:g.33075A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.749A>C
ENST00000341947.7:c.4943A>C MANE Select	ENSP00000339915.2:p.His1648Pro
ENST00000341947.6:c.4943A>C	ENSP00000339915.2:p.His1648Pro
ENST00000361917.5:c.4622A>C	ENSP00000355123.1:p.His1541Pro
ENST00000374708.8:c.4685A>C	ENSP00000363840.4:p.His1562Pro
ENST00000477772.1:n.733A>C
NM_080679.2:c.4622A>C	NP_542410.2:p.His1541Pro
NM_080680.2:c.4943A>C	NP_542411.2:p.His1648Pro
NM_080681.2:c.4685A>C	NP_542412.2:p.His1562Pro
XM_011514298.1:c.4097A>C	XP_011512600.1:p.His1366Pro
XM_011514299.1:c.4229A>C	XP_011512601.1:p.His1410Pro
XM_011514300.1:c.4049A>C	XP_011512602.1:p.His1350Pro
XM_011514301.1:c.3986A>C	XP_011512603.1:p.His1329Pro
XM_011514302.1:c.3830A>C	XP_011512604.1:p.His1277Pro
XM_011514299.2:c.4229A>C	XP_011512601.1:p.His1410Pro
XM_011514300.2:c.4049A>C	XP_011512602.1:p.His1350Pro
XM_011514302.2:c.3830A>C	XP_011512604.1:p.His1277Pro
XM_017010250.1:c.4943A>C	XP_016865739.1:p.His1648Pro
XM_017010251.2:c.3761A>C	XP_016865740.1:p.His1254Pro
NM_080680.3:c.4943A>C MANE Select	NP_542411.2:p.His1648Pro
NM_080681.3:c.4685A>C	NP_542412.2:p.His1562Pro
NM_080679.3:c.4622A>C	NP_542410.2:p.His1541Pro