Canonical Allele Identifier: CA451926425
Gene: LAMA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.129723618T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129402473T>C , CM000668.2:g.129402473T>C GRCh38
NC_000006.11:g.129723618T>C , CM000668.1:g.129723618T>C GRCh37
NC_000006.10:g.129765311T>C NCBI36
NG_008678.1:g.524333T>C , LRG_409:g.524333T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.5712T>C ENSP00000481744.2:p.Ser1904=
ENST00000618192.5:c.5976T>C ENSP00000480802.2:p.Ser1992=
ENST00000421865.3:c.5712T>C MANE Select ENSP00000400365.2:p.Ser1904=
ENST00000421865.2:c.5712T>C ENSP00000400365.2:p.Ser1904=
ENST00000617695.4:c.5712T>C ENSP00000481744.1:p.Ser1904=
ENST00000618192.4:c.5712T>C ENSP00000480802.1:p.Ser1904=
NM_000426.3:c.5712T>C , LRG_409t1:c.5712T>C NP_000417.2:p.Ser1904=
NM_001079823.1:c.5712T>C NP_001073291.1:p.Ser1904=
XM_005266981.2:c.5976T>C XP_005267038.1:p.Ser1992=
XM_005266982.2:c.5976T>C XP_005267039.1:p.Ser1992=
XM_011535820.1:c.5976T>C XP_011534122.1:p.Ser1992=
XM_005266981.3:c.5976T>C XP_005267038.1:p.Ser1992=
XM_005266982.3:c.5976T>C XP_005267039.1:p.Ser1992=
XM_011535820.2:c.5976T>C XP_011534122.1:p.Ser1992=
XM_017010851.2:c.5982T>C XP_016866340.1:p.Ser1994=
XM_017010852.1:c.4107T>C XP_016866341.1:p.Ser1369=
NM_000426.4:c.5712T>C MANE Select NP_000417.3:p.Ser1904=
NM_001079823.2:c.5712T>C NP_001073291.2:p.Ser1904=