Canonical Allele Identifier: CA1619889658

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164346A= , CM000668.2:g.33164346A=	GRCh38
NC_000006.11:g.33132123A= , CM000668.1:g.33132123A=	GRCh37
NC_000006.10:g.33240101A=	NCBI36
NG_011589.1:g.33123T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.797T=
ENST00000341947.7:c.4991T= MANE Select	ENSP00000339915.2:p.Leu1664=
ENST00000341947.6:c.4991T=	ENSP00000339915.2:p.Leu1664=
ENST00000361917.5:c.4670T=	ENSP00000355123.1:p.Leu1557=
ENST00000374708.8:c.4733T=	ENSP00000363840.4:p.Leu1578=
ENST00000477772.1:n.781T=
NM_080679.2:c.4670T=	NP_542410.2:p.Leu1557=
NM_080680.2:c.4991T=	NP_542411.2:p.Leu1664=
NM_080681.2:c.4733T=	NP_542412.2:p.Leu1578=
XM_011514298.1:c.4145T=	XP_011512600.1:p.Leu1382=
XM_011514299.1:c.4277T=	XP_011512601.1:p.Leu1426=
XM_011514300.1:c.4097T=	XP_011512602.1:p.Leu1366=
XM_011514301.1:c.4034T=	XP_011512603.1:p.Leu1345=
XM_011514302.1:c.3878T=	XP_011512604.1:p.Leu1293=
XM_011514299.2:c.4277T=	XP_011512601.1:p.Leu1426=
XM_011514300.2:c.4097T=	XP_011512602.1:p.Leu1366=
XM_011514302.2:c.3878T=	XP_011512604.1:p.Leu1293=
XM_017010250.1:c.4991T=	XP_016865739.1:p.Leu1664=
XM_017010251.2:c.3809T=	XP_016865740.1:p.Leu1270=
NM_080680.3:c.4991T= MANE Select	NP_542411.2:p.Leu1664=
NM_080681.3:c.4733T=	NP_542412.2:p.Leu1578=
NM_080679.3:c.4670T=	NP_542410.2:p.Leu1557=