Canonical Allele Identifier: CA363616190

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164370-G-A
• MyVariant Identifiers: chr6:g.33132147G>A (hg19) ; chr6:g.33164370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164370G>A , CM000668.2:g.33164370G>A	GRCh38
NC_000006.11:g.33132147G>A , CM000668.1:g.33132147G>A	GRCh37
NC_000006.10:g.33240125G>A	NCBI36
NG_011589.1:g.33099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.773C>T
ENST00000341947.7:c.4967C>T MANE Select	ENSP00000339915.2:p.Ser1656Phe
ENST00000341947.6:c.4967C>T	ENSP00000339915.2:p.Ser1656Phe
ENST00000361917.5:c.4646C>T	ENSP00000355123.1:p.Ser1549Phe
ENST00000374708.8:c.4709C>T	ENSP00000363840.4:p.Ser1570Phe
ENST00000477772.1:n.757C>T
NM_080679.2:c.4646C>T	NP_542410.2:p.Ser1549Phe
NM_080680.2:c.4967C>T	NP_542411.2:p.Ser1656Phe
NM_080681.2:c.4709C>T	NP_542412.2:p.Ser1570Phe
XM_011514298.1:c.4121C>T	XP_011512600.1:p.Ser1374Phe
XM_011514299.1:c.4253C>T	XP_011512601.1:p.Ser1418Phe
XM_011514300.1:c.4073C>T	XP_011512602.1:p.Ser1358Phe
XM_011514301.1:c.4010C>T	XP_011512603.1:p.Ser1337Phe
XM_011514302.1:c.3854C>T	XP_011512604.1:p.Ser1285Phe
XM_011514299.2:c.4253C>T	XP_011512601.1:p.Ser1418Phe
XM_011514300.2:c.4073C>T	XP_011512602.1:p.Ser1358Phe
XM_011514302.2:c.3854C>T	XP_011512604.1:p.Ser1285Phe
XM_017010250.1:c.4967C>T	XP_016865739.1:p.Ser1656Phe
XM_017010251.2:c.3785C>T	XP_016865740.1:p.Ser1262Phe
NM_080680.3:c.4967C>T MANE Select	NP_542411.2:p.Ser1656Phe
NM_080681.3:c.4709C>T	NP_542412.2:p.Ser1570Phe
NM_080679.3:c.4646C>T	NP_542410.2:p.Ser1549Phe