Canonical Allele Identifier: CA363644236

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142326T>A (hg19) ; chr6:g.33174549T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174549T>A , CM000668.2:g.33174549T>A	GRCh38
NC_000006.11:g.33142326T>A , CM000668.1:g.33142326T>A	GRCh37
NC_000006.10:g.33250304T>A	NCBI36
NG_011589.1:g.22920A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.981A>T
ENST00000341947.7:c.2408A>T MANE Select	ENSP00000339915.2:p.Tyr803Phe
ENST00000341947.6:c.2408A>T	ENSP00000339915.2:p.Tyr803Phe
ENST00000361917.5:c.2087A>T	ENSP00000355123.1:p.Tyr696Phe
ENST00000374708.8:c.2150A>T	ENSP00000363840.4:p.Tyr717Phe
ENST00000477772.1:n.272+2460A>T
NM_080679.2:c.2087A>T	NP_542410.2:p.Tyr696Phe
NM_080680.2:c.2408A>T	NP_542411.2:p.Tyr803Phe
NM_080681.2:c.2150A>T	NP_542412.2:p.Tyr717Phe
XM_011514298.1:c.1562A>T	XP_011512600.1:p.Tyr521Phe
XM_011514299.1:c.1694A>T	XP_011512601.1:p.Tyr565Phe
XM_011514300.1:c.1514A>T	XP_011512602.1:p.Tyr505Phe
XM_011514301.1:c.1451A>T	XP_011512603.1:p.Tyr484Phe
XM_011514302.1:c.1295A>T	XP_011512604.1:p.Tyr432Phe
XM_011514299.2:c.1694A>T	XP_011512601.1:p.Tyr565Phe
XM_011514300.2:c.1514A>T	XP_011512602.1:p.Tyr505Phe
XM_011514302.2:c.1295A>T	XP_011512604.1:p.Tyr432Phe
XM_017010250.1:c.2408A>T	XP_016865739.1:p.Tyr803Phe
XM_017010251.2:c.1226A>T	XP_016865740.1:p.Tyr409Phe
NM_080680.3:c.2408A>T MANE Select	NP_542411.2:p.Tyr803Phe
NM_080681.3:c.2150A>T	NP_542412.2:p.Tyr717Phe
NM_080679.3:c.2087A>T	NP_542410.2:p.Tyr696Phe