Canonical Allele Identifier: CA137061419

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1439081
• ClinVar RCV Id: RCV001949143
• dbSNP Id: rs931608129
• gnomAD v3: 6-33164382-G-A
• gnomAD v4: 6-33164382-G-A
• MyVariant Identifiers: chr6:g.33132159G>A (hg19) ; chr6:g.33164382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164382G>A , CM000668.2:g.33164382G>A	GRCh38
NC_000006.11:g.33132159G>A , CM000668.1:g.33132159G>A	GRCh37
NC_000006.10:g.33240137G>A	NCBI36
NG_011589.1:g.33087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.761C>T
ENST00000341947.7:c.4955C>T MANE Select	ENSP00000339915.2:p.Ser1652Phe
ENST00000341947.6:c.4955C>T	ENSP00000339915.2:p.Ser1652Phe
ENST00000361917.5:c.4634C>T	ENSP00000355123.1:p.Ser1545Phe
ENST00000374708.8:c.4697C>T	ENSP00000363840.4:p.Ser1566Phe
ENST00000477772.1:n.745C>T
NM_080679.2:c.4634C>T	NP_542410.2:p.Ser1545Phe
NM_080680.2:c.4955C>T	NP_542411.2:p.Ser1652Phe
NM_080681.2:c.4697C>T	NP_542412.2:p.Ser1566Phe
XM_011514298.1:c.4109C>T	XP_011512600.1:p.Ser1370Phe
XM_011514299.1:c.4241C>T	XP_011512601.1:p.Ser1414Phe
XM_011514300.1:c.4061C>T	XP_011512602.1:p.Ser1354Phe
XM_011514301.1:c.3998C>T	XP_011512603.1:p.Ser1333Phe
XM_011514302.1:c.3842C>T	XP_011512604.1:p.Ser1281Phe
XM_011514299.2:c.4241C>T	XP_011512601.1:p.Ser1414Phe
XM_011514300.2:c.4061C>T	XP_011512602.1:p.Ser1354Phe
XM_011514302.2:c.3842C>T	XP_011512604.1:p.Ser1281Phe
XM_017010250.1:c.4955C>T	XP_016865739.1:p.Ser1652Phe
XM_017010251.2:c.3773C>T	XP_016865740.1:p.Ser1258Phe
NM_080680.3:c.4955C>T MANE Select	NP_542411.2:p.Ser1652Phe
NM_080681.3:c.4697C>T	NP_542412.2:p.Ser1566Phe
NM_080679.3:c.4634C>T	NP_542410.2:p.Ser1545Phe