Canonical Allele Identifier: CA2678226497
Gene: COL11A2 HGNC NCBI

Linked Data

gnomAD v4: 6-33164569-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164569G>T , CM000668.2:g.33164569G>T GRCh38
NC_000006.11:g.33132346G>T , CM000668.1:g.33132346G>T GRCh37
NC_000006.10:g.33240324G>T NCBI36
NG_011589.1:g.32900C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.670-96C>A
ENST00000341947.7:c.4864-96C>A MANE Select ENSP00000339915.2:n.4864-96C>A
ENST00000341947.6:c.4864-96C>A ENSP00000339915.2:n.4864-96C>A
ENST00000361917.5:c.4543-96C>A ENSP00000355123.1:n.4543-96C>A
ENST00000374708.8:c.4606-96C>A ENSP00000363840.4:n.4606-96C>A
ENST00000477772.1:n.654-96C>A
NM_080679.2:c.4543-96C>A NP_542410.2:n.4543-96C>A
NM_080680.2:c.4864-96C>A NP_542411.2:n.4864-96C>A
NM_080681.2:c.4606-96C>A NP_542412.2:n.4606-96C>A
XM_011514298.1:c.4018-96C>A XP_011512600.1:n.4018-96C>A
XM_011514299.1:c.4150-96C>A XP_011512601.1:n.4150-96C>A
XM_011514300.1:c.3970-96C>A XP_011512602.1:n.3970-96C>A
XM_011514301.1:c.3907-96C>A XP_011512603.1:n.3907-96C>A
XM_011514302.1:c.3751-96C>A XP_011512604.1:n.3751-96C>A
XM_011514299.2:c.4150-96C>A XP_011512601.1:n.4150-96C>A
XM_011514300.2:c.3970-96C>A XP_011512602.1:n.3970-96C>A
XM_011514302.2:c.3751-96C>A XP_011512604.1:n.3751-96C>A
XM_017010250.1:c.4864-96C>A XP_016865739.1:n.4864-96C>A
XM_017010251.2:c.3682-96C>A XP_016865740.1:n.3682-96C>A
NM_080680.3:c.4864-96C>A MANE Select NP_542411.2:n.4864-96C>A
NM_080681.3:c.4606-96C>A NP_542412.2:n.4606-96C>A
NM_080679.3:c.4543-96C>A NP_542410.2:n.4543-96C>A