Canonical Allele Identifier: CA1887594

Gene: LCT

Linked Data

• dbSNP Id: rs760483548
• ExAC: 2:136547091 C / CA
• gnomAD v2: 2-136547091-C-CA
• gnomAD v4: 2-135789521-C-CA
• MyVariant Identifiers: chr2:g.136547091_136547092insA (hg19) ; chr2:g.135789521_135789522insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135789522dup , CM000664.2:g.135789522dup	GRCh38
NC_000002.11:g.136547092dup , CM000664.1:g.136547092dup	GRCh37
NC_000002.10:g.136263562dup	NCBI36
NG_008104.2:g.70648dup , LRG_338:g.70648dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.5563+49dup MANE Select	ENSP00000264162.2:n.5563+49dup
ENST00000264162.6:c.5563+49dup	ENSP00000264162.2:n.5563+49dup
NM_002299.2:c.5563+49dup , LRG_338t1:c.5563+49dup	NP_002290.2:n.5563+49dup
NM_002299.3:c.5563+49dup	NP_002290.2:n.5563+49dup
NM_002299.4:c.5563+49dup MANE Select	NP_002290.2:n.5563+49dup