Canonical Allele Identifier: CA3994850
Community Standard Title: NM_000426.4(LAMA2):c.8547+14G>A
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129503294G>A , CM000668.2:g.129503294G>A GRCh38
NC_000006.11:g.129824439G>A , CM000668.1:g.129824439G>A GRCh37
NC_000006.10:g.129866132G>A NCBI36
NG_008678.1:g.625154G>A , LRG_409:g.625154G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000426.4:c.8547+14G>A MANE Select NP_000417.3:n.8547+14G>A
ENST00000421865.3:c.8547+14G>A MANE Select ENSP00000400365.2:n.8547+14G>A
NM_000426.3:c.8547+14G>A , LRG_409t1:c.8547+14G>A NP_000417.2:n.8547+14G>A
NM_001079823.1:c.8535+14G>A NP_001073291.1:n.8535+14G>A
NM_001079823.2:c.8535+14G>A NP_001073291.2:n.8535+14G>A
ENST00000421865.2:c.8547+14G>A ENSP00000400365.2:n.8547+14G>A
ENST00000494137.2:c.612+14G>A ENSP00000510626.1:n.612+14G>A
ENST00000498257.6:c.612+14G>A ENSP00000510533.1:n.612+14G>A
ENST00000617695.4:c.8535+14G>A ENSP00000481744.1:n.8535+14G>A
ENST00000617695.5:c.8535+14G>A ENSP00000481744.2:n.8535+14G>A
ENST00000618192.4:c.8544+14G>A ENSP00000480802.1:n.8544+14G>A
ENST00000618192.5:c.8811+14G>A ENSP00000480802.2:n.8811+14G>A
ENST00000688198.1:n.1525+14G>A
ENST00000688799.1:c.612+14G>A ENSP00000508458.1:n.612+14G>A
ENST00000690858.1:n.1541+14G>A
ENST00000693461.1:n.884+14G>A
XM_005266981.2:c.8811+14G>A XP_005267038.1:n.8811+14G>A
XM_005266981.3:c.8811+14G>A XP_005267038.1:n.8811+14G>A
XM_005266982.2:c.8799+14G>A XP_005267039.1:n.8799+14G>A
XM_005266982.3:c.8799+14G>A XP_005267039.1:n.8799+14G>A
XM_011535820.1:c.8805+14G>A XP_011534122.1:n.8805+14G>A
XM_011535820.2:c.8805+14G>A XP_011534122.1:n.8805+14G>A
XM_017010851.2:c.8817+14G>A XP_016866340.1:n.8817+14G>A
XM_017010852.1:c.6942+14G>A XP_016866341.1:n.6942+14G>A
XR_001743859.1:n.3901-503C>T
XR_001743860.1:n.1180-503C>T
XR_001743861.1:n.1347-503C>T
XR_001743863.1:n.883-503C>T
XR_002956395.1:n.9132-503C>T
XR_002956396.1:n.3127-503C>T
XR_942984.1:n.1461-503C>T
XR_942985.1:n.1325-503C>T