Canonical Allele Identifier: CA363616481

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132205G>T (hg19) ; chr6:g.33164428G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164428G>T , CM000668.2:g.33164428G>T	GRCh38
NC_000006.11:g.33132205G>T , CM000668.1:g.33132205G>T	GRCh37
NC_000006.10:g.33240183G>T	NCBI36
NG_011589.1:g.33041C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.715C>A
ENST00000341947.7:c.4909C>A MANE Select	ENSP00000339915.2:p.Leu1637Ile
ENST00000341947.6:c.4909C>A	ENSP00000339915.2:p.Leu1637Ile
ENST00000361917.5:c.4588C>A	ENSP00000355123.1:p.Leu1530Ile
ENST00000374708.8:c.4651C>A	ENSP00000363840.4:p.Leu1551Ile
ENST00000477772.1:n.699C>A
NM_080679.2:c.4588C>A	NP_542410.2:p.Leu1530Ile
NM_080680.2:c.4909C>A	NP_542411.2:p.Leu1637Ile
NM_080681.2:c.4651C>A	NP_542412.2:p.Leu1551Ile
XM_011514298.1:c.4063C>A	XP_011512600.1:p.Leu1355Ile
XM_011514299.1:c.4195C>A	XP_011512601.1:p.Leu1399Ile
XM_011514300.1:c.4015C>A	XP_011512602.1:p.Leu1339Ile
XM_011514301.1:c.3952C>A	XP_011512603.1:p.Leu1318Ile
XM_011514302.1:c.3796C>A	XP_011512604.1:p.Leu1266Ile
XM_011514299.2:c.4195C>A	XP_011512601.1:p.Leu1399Ile
XM_011514300.2:c.4015C>A	XP_011512602.1:p.Leu1339Ile
XM_011514302.2:c.3796C>A	XP_011512604.1:p.Leu1266Ile
XM_017010250.1:c.4909C>A	XP_016865739.1:p.Leu1637Ile
XM_017010251.2:c.3727C>A	XP_016865740.1:p.Leu1243Ile
NM_080680.3:c.4909C>A MANE Select	NP_542411.2:p.Leu1637Ile
NM_080681.3:c.4651C>A	NP_542412.2:p.Leu1551Ile
NM_080679.3:c.4588C>A	NP_542410.2:p.Leu1530Ile