Canonical Allele Identifier: CA449866989

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132158G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164381G>A , CM000668.2:g.33164381G>A	GRCh38
NC_000006.11:g.33132158G>A , CM000668.1:g.33132158G>A	GRCh37
NC_000006.10:g.33240136G>A	NCBI36
NG_011589.1:g.33088C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.762C>T
ENST00000341947.7:c.4956C>T MANE Select	ENSP00000339915.2:p.Ser1652=
ENST00000341947.6:c.4956C>T	ENSP00000339915.2:p.Ser1652=
ENST00000361917.5:c.4635C>T	ENSP00000355123.1:p.Ser1545=
ENST00000374708.8:c.4698C>T	ENSP00000363840.4:p.Ser1566=
ENST00000477772.1:n.746C>T
NM_080679.2:c.4635C>T	NP_542410.2:p.Ser1545=
NM_080680.2:c.4956C>T	NP_542411.2:p.Ser1652=
NM_080681.2:c.4698C>T	NP_542412.2:p.Ser1566=
XM_011514298.1:c.4110C>T	XP_011512600.1:p.Ser1370=
XM_011514299.1:c.4242C>T	XP_011512601.1:p.Ser1414=
XM_011514300.1:c.4062C>T	XP_011512602.1:p.Ser1354=
XM_011514301.1:c.3999C>T	XP_011512603.1:p.Ser1333=
XM_011514302.1:c.3843C>T	XP_011512604.1:p.Ser1281=
XM_011514299.2:c.4242C>T	XP_011512601.1:p.Ser1414=
XM_011514300.2:c.4062C>T	XP_011512602.1:p.Ser1354=
XM_011514302.2:c.3843C>T	XP_011512604.1:p.Ser1281=
XM_017010250.1:c.4956C>T	XP_016865739.1:p.Ser1652=
XM_017010251.2:c.3774C>T	XP_016865740.1:p.Ser1258=
NM_080680.3:c.4956C>T MANE Select	NP_542411.2:p.Ser1652=
NM_080681.3:c.4698C>T	NP_542412.2:p.Ser1566=
NM_080679.3:c.4635C>T	NP_542410.2:p.Ser1545=