Canonical Allele Identifier: CA363616473

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132204A>T (hg19) ; chr6:g.33164427A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164427A>T , CM000668.2:g.33164427A>T	GRCh38
NC_000006.11:g.33132204A>T , CM000668.1:g.33132204A>T	GRCh37
NC_000006.10:g.33240182A>T	NCBI36
NG_011589.1:g.33042T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.716T>A
ENST00000341947.7:c.4910T>A MANE Select	ENSP00000339915.2:p.Leu1637His
ENST00000341947.6:c.4910T>A	ENSP00000339915.2:p.Leu1637His
ENST00000361917.5:c.4589T>A	ENSP00000355123.1:p.Leu1530His
ENST00000374708.8:c.4652T>A	ENSP00000363840.4:p.Leu1551His
ENST00000477772.1:n.700T>A
NM_080679.2:c.4589T>A	NP_542410.2:p.Leu1530His
NM_080680.2:c.4910T>A	NP_542411.2:p.Leu1637His
NM_080681.2:c.4652T>A	NP_542412.2:p.Leu1551His
XM_011514298.1:c.4064T>A	XP_011512600.1:p.Leu1355His
XM_011514299.1:c.4196T>A	XP_011512601.1:p.Leu1399His
XM_011514300.1:c.4016T>A	XP_011512602.1:p.Leu1339His
XM_011514301.1:c.3953T>A	XP_011512603.1:p.Leu1318His
XM_011514302.1:c.3797T>A	XP_011512604.1:p.Leu1266His
XM_011514299.2:c.4196T>A	XP_011512601.1:p.Leu1399His
XM_011514300.2:c.4016T>A	XP_011512602.1:p.Leu1339His
XM_011514302.2:c.3797T>A	XP_011512604.1:p.Leu1266His
XM_017010250.1:c.4910T>A	XP_016865739.1:p.Leu1637His
XM_017010251.2:c.3728T>A	XP_016865740.1:p.Leu1243His
NM_080680.3:c.4910T>A MANE Select	NP_542411.2:p.Leu1637His
NM_080681.3:c.4652T>A	NP_542412.2:p.Leu1551His
NM_080679.3:c.4589T>A	NP_542410.2:p.Leu1530His