Canonical Allele Identifier: CA363616065

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132118G>T (hg19) ; chr6:g.33164341G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164341G>T , CM000668.2:g.33164341G>T	GRCh38
NC_000006.11:g.33132118G>T , CM000668.1:g.33132118G>T	GRCh37
NC_000006.10:g.33240096G>T	NCBI36
NG_011589.1:g.33128C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.802C>A
ENST00000341947.7:c.4996C>A MANE Select	ENSP00000339915.2:p.Leu1666Ile
ENST00000341947.6:c.4996C>A	ENSP00000339915.2:p.Leu1666Ile
ENST00000361917.5:c.4675C>A	ENSP00000355123.1:p.Leu1559Ile
ENST00000374708.8:c.4738C>A	ENSP00000363840.4:p.Leu1580Ile
ENST00000477772.1:n.786C>A
NM_080679.2:c.4675C>A	NP_542410.2:p.Leu1559Ile
NM_080680.2:c.4996C>A	NP_542411.2:p.Leu1666Ile
NM_080681.2:c.4738C>A	NP_542412.2:p.Leu1580Ile
XM_011514298.1:c.4150C>A	XP_011512600.1:p.Leu1384Ile
XM_011514299.1:c.4282C>A	XP_011512601.1:p.Leu1428Ile
XM_011514300.1:c.4102C>A	XP_011512602.1:p.Leu1368Ile
XM_011514301.1:c.4039C>A	XP_011512603.1:p.Leu1347Ile
XM_011514302.1:c.3883C>A	XP_011512604.1:p.Leu1295Ile
XM_011514299.2:c.4282C>A	XP_011512601.1:p.Leu1428Ile
XM_011514300.2:c.4102C>A	XP_011512602.1:p.Leu1368Ile
XM_011514302.2:c.3883C>A	XP_011512604.1:p.Leu1295Ile
XM_017010250.1:c.4996C>A	XP_016865739.1:p.Leu1666Ile
XM_017010251.2:c.3814C>A	XP_016865740.1:p.Leu1272Ile
NM_080680.3:c.4996C>A MANE Select	NP_542411.2:p.Leu1666Ile
NM_080681.3:c.4738C>A	NP_542412.2:p.Leu1580Ile
NM_080679.3:c.4675C>A	NP_542410.2:p.Leu1559Ile