Canonical Allele Identifier: CA363617478

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164881-A-T
• MyVariant Identifiers: chr6:g.33132658A>T (hg19) ; chr6:g.33164881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164881A>T , CM000668.2:g.33164881A>T	GRCh38
NC_000006.11:g.33132658A>T , CM000668.1:g.33132658A>T	GRCh37
NC_000006.10:g.33240636A>T	NCBI36
NG_011589.1:g.32588T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.640T>A
ENST00000341947.7:c.4834T>A MANE Select	ENSP00000339915.2:p.Cys1612Ser
ENST00000341947.6:c.4834T>A	ENSP00000339915.2:p.Cys1612Ser
ENST00000361917.5:c.4513T>A	ENSP00000355123.1:p.Cys1505Ser
ENST00000374708.8:c.4576T>A	ENSP00000363840.4:p.Cys1526Ser
ENST00000477772.1:n.624T>A
NM_080679.2:c.4513T>A	NP_542410.2:p.Cys1505Ser
NM_080680.2:c.4834T>A	NP_542411.2:p.Cys1612Ser
NM_080681.2:c.4576T>A	NP_542412.2:p.Cys1526Ser
XM_011514298.1:c.3988T>A	XP_011512600.1:p.Cys1330Ser
XM_011514299.1:c.4120T>A	XP_011512601.1:p.Cys1374Ser
XM_011514300.1:c.3940T>A	XP_011512602.1:p.Cys1314Ser
XM_011514301.1:c.3877T>A	XP_011512603.1:p.Cys1293Ser
XM_011514302.1:c.3721T>A	XP_011512604.1:p.Cys1241Ser
XM_011514299.2:c.4120T>A	XP_011512601.1:p.Cys1374Ser
XM_011514300.2:c.3940T>A	XP_011512602.1:p.Cys1314Ser
XM_011514302.2:c.3721T>A	XP_011512604.1:p.Cys1241Ser
XM_017010250.1:c.4834T>A	XP_016865739.1:p.Cys1612Ser
XM_017010251.2:c.3652T>A	XP_016865740.1:p.Cys1218Ser
NM_080680.3:c.4834T>A MANE Select	NP_542411.2:p.Cys1612Ser
NM_080681.3:c.4576T>A	NP_542412.2:p.Cys1526Ser
NM_080679.3:c.4513T>A	NP_542410.2:p.Cys1505Ser