Canonical Allele Identifier: CA363617694

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164931-G-A
• MyVariant Identifiers: chr6:g.33132708G>A (hg19) ; chr6:g.33164931G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164931G>A , CM000668.2:g.33164931G>A	GRCh38
NC_000006.11:g.33132708G>A , CM000668.1:g.33132708G>A	GRCh37
NC_000006.10:g.33240686G>A	NCBI36
NG_011589.1:g.32538C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.590C>T
ENST00000341947.7:c.4784C>T MANE Select	ENSP00000339915.2:p.Ala1595Val
ENST00000341947.6:c.4784C>T	ENSP00000339915.2:p.Ala1595Val
ENST00000361917.5:c.4463C>T	ENSP00000355123.1:p.Ala1488Val
ENST00000374708.8:c.4526C>T	ENSP00000363840.4:p.Ala1509Val
ENST00000477772.1:n.574C>T
NM_080679.2:c.4463C>T	NP_542410.2:p.Ala1488Val
NM_080680.2:c.4784C>T	NP_542411.2:p.Ala1595Val
NM_080681.2:c.4526C>T	NP_542412.2:p.Ala1509Val
XM_011514298.1:c.3938C>T	XP_011512600.1:p.Ala1313Val
XM_011514299.1:c.4070C>T	XP_011512601.1:p.Ala1357Val
XM_011514300.1:c.3890C>T	XP_011512602.1:p.Ala1297Val
XM_011514301.1:c.3827C>T	XP_011512603.1:p.Ala1276Val
XM_011514302.1:c.3671C>T	XP_011512604.1:p.Ala1224Val
XM_011514299.2:c.4070C>T	XP_011512601.1:p.Ala1357Val
XM_011514300.2:c.3890C>T	XP_011512602.1:p.Ala1297Val
XM_011514302.2:c.3671C>T	XP_011512604.1:p.Ala1224Val
XM_017010250.1:c.4784C>T	XP_016865739.1:p.Ala1595Val
XM_017010251.2:c.3602C>T	XP_016865740.1:p.Ala1201Val
NM_080680.3:c.4784C>T MANE Select	NP_542411.2:p.Ala1595Val
NM_080681.3:c.4526C>T	NP_542412.2:p.Ala1509Val
NM_080679.3:c.4463C>T	NP_542410.2:p.Ala1488Val