Canonical Allele Identifier: CA449876631

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33138939A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171162A>T , CM000668.2:g.33171162A>T	GRCh38
NC_000006.11:g.33138939A>T , CM000668.1:g.33138939A>T	GRCh37
NC_000006.10:g.33246917A>T	NCBI36
NG_011589.1:g.26307T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3318T>A MANE Select	ENSP00000339915.2:p.Pro1106=
ENST00000341947.6:c.3318T>A	ENSP00000339915.2:p.Pro1106=
ENST00000361917.5:c.2997T>A	ENSP00000355123.1:p.Pro999=
ENST00000374708.8:c.3060T>A	ENSP00000363840.4:p.Pro1020=
ENST00000477772.1:n.273-5346T>A
NM_080679.2:c.2997T>A	NP_542410.2:p.Pro999=
NM_080680.2:c.3318T>A	NP_542411.2:p.Pro1106=
NM_080681.2:c.3060T>A	NP_542412.2:p.Pro1020=
XM_011514298.1:c.2472T>A	XP_011512600.1:p.Pro824=
XM_011514299.1:c.2604T>A	XP_011512601.1:p.Pro868=
XM_011514300.1:c.2424T>A	XP_011512602.1:p.Pro808=
XM_011514301.1:c.2361T>A	XP_011512603.1:p.Pro787=
XM_011514302.1:c.2205T>A	XP_011512604.1:p.Pro735=
XM_011514299.2:c.2604T>A	XP_011512601.1:p.Pro868=
XM_011514300.2:c.2424T>A	XP_011512602.1:p.Pro808=
XM_011514302.2:c.2205T>A	XP_011512604.1:p.Pro735=
XM_017010250.1:c.3318T>A	XP_016865739.1:p.Pro1106=
XM_017010251.2:c.2136T>A	XP_016865740.1:p.Pro712=
NM_080680.3:c.3318T>A MANE Select	NP_542411.2:p.Pro1106=
NM_080681.3:c.3060T>A	NP_542412.2:p.Pro1020=
NM_080679.3:c.2997T>A	NP_542410.2:p.Pro999=