Canonical Allele Identifier: CA363616475

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164428-G-A
• MyVariant Identifiers: chr6:g.33132205G>A (hg19) ; chr6:g.33164428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164428G>A , CM000668.2:g.33164428G>A	GRCh38
NC_000006.11:g.33132205G>A , CM000668.1:g.33132205G>A	GRCh37
NC_000006.10:g.33240183G>A	NCBI36
NG_011589.1:g.33041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.715C>T
ENST00000341947.7:c.4909C>T MANE Select	ENSP00000339915.2:p.Leu1637Phe
ENST00000341947.6:c.4909C>T	ENSP00000339915.2:p.Leu1637Phe
ENST00000361917.5:c.4588C>T	ENSP00000355123.1:p.Leu1530Phe
ENST00000374708.8:c.4651C>T	ENSP00000363840.4:p.Leu1551Phe
ENST00000477772.1:n.699C>T
NM_080679.2:c.4588C>T	NP_542410.2:p.Leu1530Phe
NM_080680.2:c.4909C>T	NP_542411.2:p.Leu1637Phe
NM_080681.2:c.4651C>T	NP_542412.2:p.Leu1551Phe
XM_011514298.1:c.4063C>T	XP_011512600.1:p.Leu1355Phe
XM_011514299.1:c.4195C>T	XP_011512601.1:p.Leu1399Phe
XM_011514300.1:c.4015C>T	XP_011512602.1:p.Leu1339Phe
XM_011514301.1:c.3952C>T	XP_011512603.1:p.Leu1318Phe
XM_011514302.1:c.3796C>T	XP_011512604.1:p.Leu1266Phe
XM_011514299.2:c.4195C>T	XP_011512601.1:p.Leu1399Phe
XM_011514300.2:c.4015C>T	XP_011512602.1:p.Leu1339Phe
XM_011514302.2:c.3796C>T	XP_011512604.1:p.Leu1266Phe
XM_017010250.1:c.4909C>T	XP_016865739.1:p.Leu1637Phe
XM_017010251.2:c.3727C>T	XP_016865740.1:p.Leu1243Phe
NM_080680.3:c.4909C>T MANE Select	NP_542411.2:p.Leu1637Phe
NM_080681.3:c.4651C>T	NP_542412.2:p.Leu1551Phe
NM_080679.3:c.4588C>T	NP_542410.2:p.Leu1530Phe