Canonical Allele Identifier: CA363616386

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164410-G-A
• MyVariant Identifiers: chr6:g.33132187G>A (hg19) ; chr6:g.33164410G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164410G>A , CM000668.2:g.33164410G>A	GRCh38
NC_000006.11:g.33132187G>A , CM000668.1:g.33132187G>A	GRCh37
NC_000006.10:g.33240165G>A	NCBI36
NG_011589.1:g.33059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.733C>T
ENST00000341947.7:c.4927C>T MANE Select	ENSP00000339915.2:p.Leu1643Phe
ENST00000341947.6:c.4927C>T	ENSP00000339915.2:p.Leu1643Phe
ENST00000361917.5:c.4606C>T	ENSP00000355123.1:p.Leu1536Phe
ENST00000374708.8:c.4669C>T	ENSP00000363840.4:p.Leu1557Phe
ENST00000477772.1:n.717C>T
NM_080679.2:c.4606C>T	NP_542410.2:p.Leu1536Phe
NM_080680.2:c.4927C>T	NP_542411.2:p.Leu1643Phe
NM_080681.2:c.4669C>T	NP_542412.2:p.Leu1557Phe
XM_011514298.1:c.4081C>T	XP_011512600.1:p.Leu1361Phe
XM_011514299.1:c.4213C>T	XP_011512601.1:p.Leu1405Phe
XM_011514300.1:c.4033C>T	XP_011512602.1:p.Leu1345Phe
XM_011514301.1:c.3970C>T	XP_011512603.1:p.Leu1324Phe
XM_011514302.1:c.3814C>T	XP_011512604.1:p.Leu1272Phe
XM_011514299.2:c.4213C>T	XP_011512601.1:p.Leu1405Phe
XM_011514300.2:c.4033C>T	XP_011512602.1:p.Leu1345Phe
XM_011514302.2:c.3814C>T	XP_011512604.1:p.Leu1272Phe
XM_017010250.1:c.4927C>T	XP_016865739.1:p.Leu1643Phe
XM_017010251.2:c.3745C>T	XP_016865740.1:p.Leu1249Phe
NM_080680.3:c.4927C>T MANE Select	NP_542411.2:p.Leu1643Phe
NM_080681.3:c.4669C>T	NP_542412.2:p.Leu1557Phe
NM_080679.3:c.4606C>T	NP_542410.2:p.Leu1536Phe