Canonical Allele Identifier: CA363606167

Gene: COL11A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33180284G>A , CM000668.2:g.33180284G>A	GRCh38
NC_000006.11:g.33148061G>A , CM000668.1:g.33148061G>A	GRCh37
NC_000006.10:g.33256039G>A	NCBI36
NG_011589.1:g.17185C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.1333C>T MANE Select	ENSP00000339915.2:p.Pro445Ser
ENST00000341947.6:c.1333C>T	ENSP00000339915.2:p.Pro445Ser
ENST00000361917.5:c.1012C>T	ENSP00000355123.1:p.Pro338Ser
ENST00000374708.8:c.1075C>T	ENSP00000363840.4:p.Pro359Ser
ENST00000457788.5:c.1333C>T	ENSP00000405520.1:p.Pro445Ser
NM_080679.2:c.1012C>T	NP_542410.2:p.Pro338Ser
NM_080680.2:c.1333C>T	NP_542411.2:p.Pro445Ser
NM_080681.2:c.1075C>T	NP_542412.2:p.Pro359Ser
XM_011514298.1:c.487C>T	XP_011512600.1:p.Pro163Ser
XM_011514299.1:c.619C>T	XP_011512601.1:p.Pro207Ser
XM_011514300.1:c.439C>T	XP_011512602.1:p.Pro147Ser
XM_011514301.1:c.376C>T	XP_011512603.1:p.Pro126Ser
XM_011514302.1:c.220C>T	XP_011512604.1:p.Pro74Ser
XM_011514299.2:c.619C>T	XP_011512601.1:p.Pro207Ser
XM_011514300.2:c.439C>T	XP_011512602.1:p.Pro147Ser
XM_011514302.2:c.220C>T	XP_011512604.1:p.Pro74Ser
XM_017010250.1:c.1333C>T	XP_016865739.1:p.Pro445Ser
XM_017010251.2:c.151C>T	XP_016865740.1:p.Pro51Ser
NM_080680.3:c.1333C>T MANE Select	NP_542411.2:p.Pro445Ser
NM_080681.3:c.1075C>T	NP_542412.2:p.Pro359Ser
NM_080679.3:c.1012C>T	NP_542410.2:p.Pro338Ser