Canonical Allele Identifier: CA363616049

Gene: COL11A2

Linked Data

• dbSNP Id: rs146555195
• MyVariant Identifiers: chr6:g.33132114C>A (hg19) ; chr6:g.33164337C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164337C>A , CM000668.2:g.33164337C>A	GRCh38
NC_000006.11:g.33132114C>A , CM000668.1:g.33132114C>A	GRCh37
NC_000006.10:g.33240092C>A	NCBI36
NG_011589.1:g.33132G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.806G>T
ENST00000341947.7:c.5000G>T MANE Select	ENSP00000339915.2:p.Arg1667Leu
ENST00000341947.6:c.5000G>T	ENSP00000339915.2:p.Arg1667Leu
ENST00000361917.5:c.4679G>T	ENSP00000355123.1:p.Arg1560Leu
ENST00000374708.8:c.4742G>T	ENSP00000363840.4:p.Arg1581Leu
ENST00000477772.1:n.790G>T
NM_080679.2:c.4679G>T	NP_542410.2:p.Arg1560Leu
NM_080680.2:c.5000G>T	NP_542411.2:p.Arg1667Leu
NM_080681.2:c.4742G>T	NP_542412.2:p.Arg1581Leu
XM_011514298.1:c.4154G>T	XP_011512600.1:p.Arg1385Leu
XM_011514299.1:c.4286G>T	XP_011512601.1:p.Arg1429Leu
XM_011514300.1:c.4106G>T	XP_011512602.1:p.Arg1369Leu
XM_011514301.1:c.4043G>T	XP_011512603.1:p.Arg1348Leu
XM_011514302.1:c.3887G>T	XP_011512604.1:p.Arg1296Leu
XM_011514299.2:c.4286G>T	XP_011512601.1:p.Arg1429Leu
XM_011514300.2:c.4106G>T	XP_011512602.1:p.Arg1369Leu
XM_011514302.2:c.3887G>T	XP_011512604.1:p.Arg1296Leu
XM_017010250.1:c.5000G>T	XP_016865739.1:p.Arg1667Leu
XM_017010251.2:c.3818G>T	XP_016865740.1:p.Arg1273Leu
NM_080680.3:c.5000G>T MANE Select	NP_542411.2:p.Arg1667Leu
NM_080681.3:c.4742G>T	NP_542412.2:p.Arg1581Leu
NM_080679.3:c.4679G>T	NP_542410.2:p.Arg1560Leu